Identification Number:
DI 23022 TN 22
Intended Audience:See Transmittal Sheet
Originating Office:ORDP ODP
Title:Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)
Type:POMS Transmittals
Program:Disability
Link To Reference:
 

PROGRAM OPERATIONS MANUAL SYSTEM
Part DI – Disability Insurance
Chapter 230 – Special Issues
Subchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)
Transmittal No. 22, 12/28/2018

Audience

PSC: CS, DEC, DTE, IES, RECONR;
ODD-DDS: ADJ, DHU;
OCO-OEIO: CR, ERE, FCR, FDE, RECONE;
OCO-ODO: DE, DEC, DS, RECONE;

Originating Component

ODP

Effective Date

Upon Receipt

Background

This transmittal contains updates POMS sections DI 23022.120 through DI 23022.989. Revisions include updates to the content to comply with the Social Security Administration’s plain language initiative and updates to policy guidance.

 

Summary of Changes

DI 23022.120 Osteosarcoma

• Revised the structure of the summary to improve usability and flow of information;

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding;”

• Revised “Onset and Progression” section heading to “Progression;”

• Added information about physical findings that occur with each condition;

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised listing 13.11 to 13.11 A in “Meets” section, and

• Added “A” to listing 13.11 in “Remarks” section

 

DI 23022.670 Alobar Holoprosencephaly

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names,”

• Revised “Description” section,

• Revised “Diagnostic Testing” section,

• Revised “Physical findings” section,

• Revised “Progression” section,

• Revised “Treatment” section, and

• Added guidance to “Remarks” column under “Meets section.

 

DI 23022.685 Carcinoma of Unknown Primary Site

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.695 Child Neuroblastoma—with distant metastases or recurrent

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.705 Chondrosarcoma—with multimodal therapy

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.710 Cornelia de Lange Syndrome--Classic Form

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.715 Ewing Sarcoma

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.720 Follicular Dendritic Cell Sarcoma-- metastatic or recurrent

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.725 Fucosidosis--Type I

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.730 Galactosialidosis--Early and Late Infantile Types

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

• Revised “Description” section.

 

DI 23022.735 Glioma - Grade III and IV

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Alternate Names” section, and

• Revised “Diagnostic testing” section.

 

DI 23022.745 Hepatoblastoma

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Diagnostic testing” section; and

• Revised “Physical findings” section.

 

DI 23022.750 Histiocytosis Syndromes

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Physical findings” section;

• Deleted “A or B” from listings 3.02 and 103.02 in “Meets” section.

 

DI 23022.755 Hutchinson-Gilford Progeria Syndrome

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Updated “Remarks” column in “Meets” section.

 

DI 23022.780 Infantile Free Sialic Acid Storage Disease

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.800 Lymphomatoid Granulomatosis--Grade III

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Diagnostic testing” section, and

• Revised “Progression” section.

 

DI 23022.805 Malignant Brain Stem Gliomas--Childhood

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information, • Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Description” section,

• Revised “Diagnostic testing” section,

• Revised “Physical findings” section,

• Revised “Treatment” section,

• Added “A and B” to listing 113.13,

• Added listing 113.13 C 2 to “Listing” column in “Meets section,

• Updated “Remarks” section, and

• Deleted listing 13.13 A 2 from “Equals” section.

 

DI 23022.815 Mastocytosis--Type IV

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Alternate Names” section,

• Revised “Description” section, and

• Revised “Progression” section.

 

DI 23022.825 Merkel Cell Carcinoma – with metastases

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Added listing 13.03 B to “Meets” section,

• Revised “Remarks” column in “Meets” section,

• Deleted listing 13.03 A from “Equals” section, and

• Deleted “Remarks” from “Equals” section.

 

DI 23022.835 Nephrogenic Systemic Fibrosis

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information,

  • Deleted listings 6.02 A and 106.02 A, C, & D from "Meets" section,

  • Added listings 6.03, 106.03, and 106.05 to "Meets" section,

  • Revised "Meets" remarks,

  • Deleted listing 6.02 C from "Equals" section,

  • Added listing 6.05 to "Equals" section, and

  • Deleted "B" from listing 14.04 B in "Equals" section.

DI 23022.840 Obliterative Bronchiolitis

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Description” section,

• Revised “Diagnostic testing” section,

• Revised “Progression” section, and

• Revised “Remarks” column in “Meets” section.

 

DI 23022.855 Pearson Syndrome

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Deleted listing 107.06 from “Meets” section,

• Added listing 107.10 to “Meets” section;, and

• Deleted listing 107.03 from “Equals” section.

 

DI 23022.870 Peripheral Nerve Cancer – metastatic or recurrent

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Alternate Names” section,

• Revised “Description” section,

• Revised “Remarks” column in “Meets” section,

• Added listing 113.13 C to “Equals” section, and

• Added guidance to “Remarks” column in “Equals” section.

 

DI 23022.880 Rhabdomyosarcoma

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Alternate Names” section, and

• Revised “Description” section.

 

DI 23022.885 Rhizomelic Chondrodysplasia Punctata

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

Revised “Physical findings” section.

 

DI 23022.890 Schindler Disease--Type I

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.895 Smith Lemli Opitz Syndrome

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.900 Spinal Nerve Root Cancer – metastatic or recurrent

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

• Deleted listing 113.13 C from “Equals” section.

 

DI 23022.915 Wolf-Hirschhorn Syndrome

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Diagnostic testing” section, and

• Revised “Physical findings” section.

 

DI 23022.920 Xeroderma Pigmentosum

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.921 Adult Non-Hodgkin Lymphoma

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.927 Alveolar Soft Part Sarcoma

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

• Revised “Diagnostic testing” section.

 

DI 23022.929 Aplastic Anemia

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.931 Beta Thalassemia Major

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

• Revised “Diagnostic testing” section.

 

DI 23022.933 Bilateral Optic Atrophy - Infantile

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Deleted “A or B” from listing 102.02A or B, and

• Deleted “A, B, or C” from listing 102.03 A, B, or C.

 

DI 23022.939 Congenital Lymphedema

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Description” section, and

• Added guidance to “Remarks” column in “Equals” section.

 

DI 23022.943 Dravet Syndrome

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

• Revised “Description” section.

 

DI 23022.945 Endometrial Stromal Sarcoma

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.947 Erdheim Chester Disease

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Description” section, and

• Revised “Treatment” section.

 

DI 23022.951 Fryns Syndrome

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Diagnostic testing” section, and

• Revised “Suggested MER for Evaluation.”

 

DI 23022.953 Fulminant Giant Cell Myocarditis

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Description” section, and

• Revised “Physical findings” section.

 

DI 23022.955 Hepatopulmonary Syndrome

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Description” section,

• Revised “Physical findings” section, and

• Revised “Suggested MER for Evaluation” section.

 

DI 23022.957 Hepatorenal Syndrome

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Description” section,

• Revised “Physical findings” section, and

• Revised “Suggested MER for Evaluation” section.

 

DI 23022.959 Jervell and Lange-Nielsen Syndrome

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names,”

• Deleted “A or B” from listing 102.10, and

• Deleted “A or B” from listing 102.11.

 

DI 23022.961 Leiomyosarcoma

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

• Revised “Description” section.

 

DI 23022.963 Malignant Gastrointestinal Stromal Tumor

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

• Revised “Remarks” in “Meets” section.

 

DI 23022.965 Malignant Germ Cell Tumor

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.969 Menkes Disease- Classic or Infantile Onset Form

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.971 NFU-1 Mitochondrial Disease

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

• Revised “Description” section.

 

DI 23022.975 Peritoneal Mucinous Carcinomatosis

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

• Revised “Description” section.

 

DI 23022.979 Retinopathy of Prematurity - Stage V

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised summary title,

• Revised “Diagnostic testing” section,

• Revised “Physical findings” section,

• Revised “Progression” section,

• Revised “Suggested MER for Evaluation,” and

• Added “Remarks” to “Meets” section.

 

DI 23022.983 Severe Combined Immunodeficiency -- Childhood

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information, • Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information, and

• Deleted “or C” from meets listing guidance.

 

DI 23022.985 Sinonasal Cancer

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information,

• Revised “Description” section.

 

DI 23022.987 Transplant Coronary Artery Vasculopathy

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information, • Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information,

• Removed component identifying information,

• Revised “Description” section, and

• Revised “Progression” section.

 

DI 23022.989 Usher Syndrome - Type I

• Revised the structure of the summary to improve usability and flow of information,

• Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

• Revised “Onset and Progression” section heading to “Progression,”

• Added information about physical findings that occur with each condition,

• Added ICD-9-CM coding information,

• Updated the information in the “Suggested MER for Evaluation” section,

• Revised “Meets Listing” heading to “Meets,”

• Revised “Medical Equals” heading to “Equals,”

• Revised “Listing of Impairments” to “the listings,”

• Removed last updated information, and

• Removed component identifying information.

 

DI 23022.120 Osteosarcoma

COMPASSIONATE ALLOWANCE INFORMATION

OSTEOSARCOMA

ALTERNATE NAMES

Osteogenic Sarcoma; Chondroblastic Osteocarcoma; Multifocal Osteosarcoma; Metastatic Osteosarcoma; Fibroblastic Osteosarcoma; Central Osteosarcoma; Conventional Central Osteosarcoma; Classical Osteosarcoma; Osteoblastic Sarcoma; Central Osteogenic Sarcoma; Sclerosing Osteosarcoma

DESCRIPTION

Osteosarcoma is the most common bone cancer in children and adolescents, with peak onset in the second decade. It tends to occur in the long bones (particularly distal femur, proximal tibia, and proximal humerus), but can occur in any bone. The lungs are the most common site of metastasis. Kidneys, adrenal gland, brain, and heart can also be sites of metastasis.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Diagnostic testing for osteosarcoma includes:

• Surgical biopsy;

• X-rays;

• CT scan;

• MRI scan; and

• Radionuclide bone scans.

Physical findings : The signs and symptoms of osteosarcoma may include:

• Swelling or pain at site of tumor or with activity;

• Limping (if tumor is in leg);

• Limitation of motion of the affected area; and

• Pathologic fractures.

ICD-9: 170

PROGRESSION

The prognosis of osteosarcoma depends on age at presentation, the extent of the disease (size and location of tumor, presence or absence of metastasis), and the response to therapy. Long-term survival rates are better if the cancer has not spread to the lungs (pulmonary metastasis). If the cancer has spread to other parts of the body, prognosis is better and there is still a chance of cure with effective treatment.

TREATMENT

Treatment may include chemotherapy, radiation, surgery, bone grafting, limb-amputation, and limb-saving (salvage) surgery.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical history and examination that describes the diagnostic features of the impairment;

• Imaging tests;

• Pathology/biopsy report of the cancer; and

• Treatment records including surgical procedures, and up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.11 A

Osteosarcoma that is inoperable or unresectable meets listing 13.11 A.

13.11 C

Osteosarcoma that has distant metastases meets listing 13.11 C.

13.11 D

Osteosarcoma in adults treated with multimodal therapy meets 13.11 D without regard to effectiveness of treatment.

113.03 A or B

Pediatric osteosarcoma meets 113.03 (solid tumors); only a pathology report is needed.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.670 Alobar Holoprosencephaly

COMPASSIONATE ALLOWANCE INFORMATION

ALOBAR HOLOPROSENCEPHALY

ALTERNATE NAMES

Alobar HPE; Holoprosencephaly; HPE; Holoprosencephaly 1 Alobar; Familial Alobar Holoprosencephaly; Holoprosencephaly Sequence

DESCRIPTION

Alobar Holoprosencephaly (HPE) is the most severe type of holoprosencephaly, a structural anomaly of the brain that occurs early in gestational development. Inalobar HPE, there is a complete failure of the brain to divide into right and left hemispheres, resulting in the loss of midline structures of the brain and face, as well as fusion of the cavities (ventricles) of the brain.

The affected fetus is usually stillborn or dies soon after birth, or during the first 6 months of life. HPE may be associated with trisomy syndromes or other genetic mutations found in at least 14 different genes.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: MRI or CT of the brain

Physical findings : Most infants with alobar HPE have severe facial anomalies, including:

• A single eye (cyclopia);

• Very closely spaced eyes (ethmocephaly);

• Absent eyes (anophthalmia);

• Very small eye (microphthalmia) with a tubular-shaped nose (proboscis);

• Closely spaced eyes (hypotelorism) and a flattened nose or cleft lip that occurs in the middle of the lip (median cleft lip) or on both sides (bilateral cleft lip).

Other findings may include:

  • Developmental delay;

  • Seizures;

  • Hydrocephalus (buildup of brain fluid);

  • Hypothalamic/pituitary and brain stem dysfunction;

  • Abnormal swallow or feeding difficulties; and

  • Failure to thrive/abnormal growth.

ICD-9: 742.2

PROGRESSION

Outcomes for HPE vary based upon the severity of the malformation. Most infants Approximately 50% of children with alobar HPE die in first six months life.before age 4 to 5 months.

TREATMENT

There is no cure for HPE. Treatment is symptomatic and supportive and may include antiepileptic drugs for seizures and hormone replacement therapy for pituitary dysfunction.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes the diagnostic features of the impairment; and

  • Cranial MRI or CT.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

Only alobar HPE is considered to meet the criteria in listing 110.08 A. For lobar and semilobar HPE, as the clinical course is more variable, evaluate on a case-by-case basis under affected body systems; growth and development, and functional limitation.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.685 Carcinoma of Unknown Primary Site

COMPASSIONATE ALLOWANCE INFORMATION

CARCINOMA OF UNKNOWN PRIMARY SITE

ALTERNATE NAMES

Cancer of Unknown Primary Origin; CUP; Origin of Unknown Primary Site; Occult Primary Malignancy; Occult Primary Cancer; Malignant Neoplasms of Unknown site; Malignant Neoplasms of Unknown Origin

DESCRIPTION

Carcinoma of Unknown Primary Site (CUP) is a condition where cancer cells are found in the body, but the place where the cells first started growing (the origin or primary site) cannot be determined. The clinical presentation of cancer of unknown primary origin is extremely variable, and depends on the extent and type of organ involvement.

Most people with CUP present with multiple areas of involvement in multiple visceral sites (organs in the cavities of the body), the most common sites of involvement being lung, bone, lymph nodes, and liver. Individuals with CUP are presumed to all have stage IV disease at the time of initial presentation.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Diagnostic testing for CUP includes biopsy, imaging studies, and laboratory analysis.

Physical findings: Individuals with CUP may have:

  • Long-lasting pain in a specific area of the body;

  • Loss of appetite;

  • Unexplained weight loss;

  • A cough or hoarseness that doesn’t go away;

  • Thickening or lump in any part of the body;

  • Changes in bowel or bladder habits;

  • Unusual bleeding or discharge; and

  • Recurring fever or night sweats.

ICD-9: 199.1

PROGRESSION

The incidence of CUP increases with age, with the median age on presentation for both men and women ranging from 59-66 years. The overall prognosis of patients with cancer of unknown primary origin with multiple organ involvement and poor response to treatment is grave.

TREATMENT

The treatment for CUP is dependent on organ involvement.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical history and examination that describes the diagnostic features of the impairment;

• Imaging tests;

• Pathology/biopsy report of the cancer; and

• Treatment records including surgical procedures, and up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.27

CUP meets the criteria in listing 13.27 upon confirmed diagnosis, regardless of effectiveness of treatment, except squamous cell carcinoma of unknown primary site confined to the neck nodes, which we evaluate under listing 13.02.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.695 Child Neuroblastoma—with distant metastases or recurrent

COMPASSIONATE ALLOWANCE INFORMATION

CHILD NEUROBLASTOMA

ALTERNATE NAMES

Congenital Neuroblastoma; Sympathicoblastoma; Stage IVS Neuroblastoma; Pepper’s syndrome; Schwannian Stroma-Poor Neuroblastoma

DESCRIPTION

Neuroblastoma is a malignant solid tumor that develops from the nerve tissues that form the sympathetic nervous system (the part of the nervous system that controls body functions, such as heart rate, blood pressure, digestion, and levels of certain hormones). The cause of neuroblastoma is unknown. Most neuroblastomas begin in the abdomen near the adrenal glands, or next to the spinal cord, or in the chest. Child Neuroblastoma with distant metastases or recurrent is considered an aggressive tumor because it often quickly spreads to other parts of the body.

The first symptoms are usually fever, a general sick feeling (malaise), and pain. There may also be loss of appetite, weight loss, and diarrhea. More specific signs and symptoms depend on the type of neuroblastoma.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Diagnostic tests include:

• Urine catecholamine levels (vanillylmandellic acid and homovanillic acid levels);

• Imaging tests (x-ray, ultrasound, CT scan, MRI, radionuclide bone scan);

• Tumor biopsy;

• Bone marrow biopsy; and

• Bone marrow aspiration.

Physical findings : Presentation signs vary depending on the site of the tumor, such as:

• Abdominal or liver mass;

• High blood pressure and a fast heart rate (caused by adrenal gland tumors); and

• Swollen lymph nodes.

ICD-9: 194.0

PROGRESSION

Neuroblastoma occurs in infants and young children, and is frequently diagnosed before age 5. It may occur in older children but only rarely.

Stage IV is considered advanced if the tumor has spread to other parts of the body, most commonly the skin, liver or bone marrow. Stage IVS applies only to children younger than 1 year old. However, despite the extent of metastasis, babies with Stage IVS have a good chance of recovery, and sometimes the condition sometimes resolves without any treatment.

Patients older than 18 months usually present with metastatic disease and have poor outcomes despite intensive therapy. Most recurrences occur during the first 2 years following treatment.

TREATMENT

Treatment varies depending on location of the tumor, the stage of the cancer, and patient’s age. The types of treatment may include surgery, chemotherapy, and radiation therapy. Stem cell transplantation may be needed for patients with high-risk disease.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

Suggested Listings for Evaluation:

• Clinical history and examination that describes the diagnostic features of the impairment;

• Imaging tests;

• Pathology/biopsy report of the cancer; and

• Treatment records including surgical procedures, and up-to-date progress notes.

DETERMINATION

LISTING

REMARKS

Meets

113.21 B

Requires documentation of metastasis or recurrence.

113.21 C

Requires documentation of metastasis or recurrence.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.705 Chondrosarcoma—with multimodal therapy

 

COMPASSIONATE ALLOWANCE INFORMATION

CHONDROSARCOMA

ALTERNATE NAMES

Chondrosarcoma Grade III; Dedifferentiated Chondrosarcoma; Mesenchymal Chondrosarcoma

DESCRIPTION

Chondrosarcoma is the second most common form of bone cancer that primarily affects people over 40 years old, although it sometimes affects younger adults, adolescents, and children. It usually originates in the legs, arms, shoulder blades, ribs, pelvis, or pelvic bones, but may be found in any bone and sometimes outside of the bones (e.g., adjacent muscles). Chondorsarcoma with multimodal therapy indicates that the response to treatment has been poor and requires a combination of chemotherapy, surgery, and radiation therapy before or after surgery.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : Diagnostic testing for chondrosarcoma includes x-rays, CT or MRI imaging to identify the tumor. A biopsy confirms the diagnosis.

Physical findings: Physical findings of chondrosarcoma vary, depending on the location and size of the tumor. Individuals may experience:

• Pain; Swelling or a lump at the tumor site;

• Unexplained weight loss;

• Fatigue;

• Difficulties breathing;

• Fatigue; and

• Fever or night sweats.

ICD-9: 170

PROGRESSION

Chondrosarcoma usually begins as a single tumor. Spread (metastases) to other parts of the body is common if the disease progresses to grade III, dedifferentiated, or mesenchymal chondrosarcoma. Inoperable, unresectable, and metastatic chondrosarcomas have poor prognoses, with less than a third of patients surviving five years.

TREATMENT

Surgery is the main treatment. Doctors may also use adjuvant chemotherapy if the cancer has spread. Recurrent chondrosarcoma may require surgery and radiation, and perhaps ablation treatments (e.g., liquid nitrogen or heating probes) to remove residual tumor.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Report that specifies the type, extent, and site of the primary, recurrent, or metastatic lesion;

• Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings;

• Clinical history and examination that describes the diagnostic features of the impairment;

• Imaging tests; and

• Treatment records including surgical procedures, and up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.11 D

Chondrosarcoma in adults treated with multimodal therapy meets 13.11 D without regard to effectiveness of treatment.

113.03

Pediatric chondrosarcoma meets listing 113.03.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.710 Cornelia de Lange Syndrome--Classic Form

COMPASSIONATE ALLOWANCE INFORMATION

CORNELIA de LANGE SYNDROME - CLASSIC FORM

ALTERNATE NAMES

Classic Form Cornelia de Lange Syndrome; CDLS1, Brachmann-De Lange Syndrome; BDLS; CdLS; de Lange Syndrome; Amsterdam Dwarfism; Bushy Syndrome

DESCRIPTION

Cornelia de Lange Syndrome (CdLS) is a genetic disorder that affects multiple body systems. There are three forms of this disorder--the classic or severe form, caused by mutations on the NIPBL gene; and the milder forms, CDLS2 and CDLS3, caused by mutations in SMC1A and SMC3 genes.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis of the classic form of CdLS requires a positive finding of mutations in the NIPBL gene.

Physical findings: In children, classic CdLS is characterized by:

• Early feeding difficulties;

• Global developmental delays with severe to profound intellectual disabilities;

• Limited language;

• Poor growth;

• Skeletal abnormalities involving missing digits of the hands (oligodacyly);

• Small head size (microcephaly);

• Characteristic facial features with low set ears, long eyelashes, bushy eyebrows joined in the middle (synophrys), widely spaced teeth, upturned nose;

• Excessive body hair (hirsutism);

• Cardiac septal defects;

• Genital abnormalities (males);

• Musculoskeletal abnormalities including reduction defects with absent forearms alone, small hands or feet, and missing fingers;

• Seizures;

• Gastroesophageal reflux;

• Hearing loss; and

• Vision abnormalities.

Some children with CdLS demonstrate stereotypical behaviors similar to autism, including self-stimulation, self-destructive tendencies, hyperactivity, and other behavior problems.

ICD-9: 759.89

PROGRESSION

Prenatal onset growth failure occurs in most newborns with CdLS, with continuing postnatal height, weight, and head circumference growth below the fifth percentile throughout life. Most individuals with classic CdLS have been reported to have severe to profound intellectual disability with IQs ranging from 30 to 86 (mean 53).

TREATMENT

There is currently no cure for this disorder. Treatment and management of CdLS is symptomatic, such as gastrostomy tube placement for nutrition and gastroesophageal reflux, and anticonvulsant medication for seizures. Death most commonly is related to aspiration pneumonia.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical history and examination that describes the diagnostic features, physical findings of the impairment;

• Laboratory studies; and

• Developmental assessment or psychological testing to address allegations of mental impairment may be warranted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.715 Ewing Sarcoma

COMPASSIONATE ALLOWANCE INFORMATION

EWING SARCOMA

ALTERNATE NAMES

Ewing Tumor; Ewing Sarcoma of Bone, Ewing Sarcoma of Soft Tissue; Primitive Neuroectodermal Tumor; PNET; Askin Tumor; Diffuse Bone Endothelioma; Endothelial Myeloma; Bone Endothelioma; Endothelial Sarcoma of Bone; Extraosseous Ewing Sarcoma

DESCRIPTION

Ewing Sarcoma is a malignant, vascular, solid, round-cell tumor in which cancer cells are found in the bone or in soft tissue. The most common areas in which it occurs are the pelvis, the femur, the humerus, and the ribs. It is an aggressive cancer and multimodal (therapy that combines more than one method of treatment) therapy is virtually always required.

Ewing Sarcoma is part of a group of four different types of cancer, known collectively as the Ewing Family of Tumors (EFT):

• Ewing bone sarcoma, which accounts for about 85% of all cases, is usually found in the long bones in the arm or leg, although it sometimes occurs in the pelvis or ribcage;

• Extraosseous sarcomas are tumors that occur outside the bone;

• Primitive Neuroectodermal Tumor (PNET), also known as peripheral neuroepithelioma, can occur in bone and/or soft tissue; and

• Askin tumor, a PNET that occurs in the marrow cavities of the chest wall.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Diagnostic testing for Ewing sarcoma includes:

• X-rays;

• Biopsy;

• CT scan;

• Radionuclide bone scan;

• MRI; and

• PET scan.

The definitive diagnosis is based on histologic findings, immunohistochemistry, and cytogenetic and molecular studies.

Physical findings : Physical findings may include:

• Localized pain;

• Swelling and warmth at site of tumor;

• Fever;

• Weight loss;

• Pathological fracture;

• Local tenderness; and

• Visible blood vessels on skin over tumor.

ICD-9: 170.9

PROGRESSION

Onset for Ewing Sarcoma can occur any time during childhood, with peak incidence in the teen years. The prognosis depends on the location of the tumor and whether or not the cancer has spread. Approximately 30% are metastatic at presentation. Diagnostic staging procedures attempt to distinguish individuals with localized disease from those with metastatic disease. Most commonly, metastases occur in the chest, bone, and/or bone marrow. Less common sites include the central nervous system and lymph nodes.

TREATMENT

All types of the Ewing Family of Sarcomas are treated similarly based on clinical presentation of local versus metastatic disease. The main treatments for Ewing Sarcoma are chemotherapy, surgery, and radiation, virtually always used in combination.

In the past, surgery on tumors in the arm or leg bones usually required amputation. However, new techniques such as limb-sparing surgery, bone grafts, and artificial bones, can help certain patients avoid losing an arm or leg and maintain some degree of function.

Side effects associated with radiation may include skin damage, muscle scarring and loss of joint flexibility, damage to nearby organs, loss of bone growth in growing children, secondary cancers caused by radiation, chronic swelling of an extremity, and slow wound healing.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Report that specifies the type, extent, and site of the primary, recurrent, or metastatic lesion;

• Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings;

• Clinical history and examination that describes the diagnostic features of the impairment;

• Imaging tests; and

• Treatment records including surgical procedures, and up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

13.11

Ewing sarcoma in adults treated with multimodal therapy meets 13.11 D without regard to effectiveness of treatment.

113.03

Pediatric Ewing sarcoma meets 113.03.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.720 Follicular Dendritic Cell Sarcoma -- metastatic or recurrent

COMPASSIONATE ALLOWANCE INFORMATION

FOLLICULAR DENDRITIC CELL SARCOMA

ALTERNATE NAMES

Follicular Dendritic Cell Tumor/Sarcoma; FDCT/S; Dendritic Cell Sarcoma

DESCRIPTION

Follicular Dendritic Cell Sarcoma (FDCS) is part of a family of extremely rare soft tissue malignant neoplasms that have a significant recurrent and metastatic potential. Although most people with FDCS respond to initial treatment, most have recurrence of the cancer later. Most cases of FDCS develop in the lymph nodes, but approximately 30% of these sarcomas originate in extranodal sites (areas outside of the lymph nodes). Follicular Dendritic Cell Sarcoma that is metastatic or recurrent indicates that the malignant tumor has spread to other parts of the body, or has come back after treatment.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : Diagnosing FDCS is difficult as the tumor closely mimics other tumors and tumor like conditions. Cases may need confirmation of diagnosis by immunohistochemistry. Imaging tests are used to detect recurrence or metastasis.

Physical findings: Individuals with FCDS may experience:

• Swelling in the lymph nodes;

• Cough;

• Sore throat;

• Difficulty swallowing;

• Weight loss; and

• Tiredness.

Individuals with abdominal FDCS may have pain in the abdominal area.

ICD-9: 202.98

PROGRESSION

Age at onset is variable, with median age of 41 years of age. Current data show overall recurrence and metastatic rates of 43% and 24%, respectively.

TREATMENT

Currently there is no optimal standard treatment for FDCS. Treatment is supportive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical history and examination that describes the diagnostic features of the impairment;

• Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings;

• Imaging tests; and

• Treatment records including surgical procedures, and up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

Adult FDCS with metastases meets the criteria in listing 13.04 A. Adult recurrent FDCS meets the criteria in listing 13.04 B.
113.03

Pediatric FDCS meets the criteria in listing 113.03 A, regardless of metastases. Pediatric recurrent FDCS meets the criteria in listing 113.03 B.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.725 Fucosidosis -- Type I

COMPASSIONATE ALLOWANCE INFORMATION

FUCOSIDOSIS - TYPE I

ALTERNATE NAMES

Alpha-L-Fucosidase Deficiency; ALF; Fucosidosis Infantile Type; Fucosidosis Severe

DESCRIPTION

Fucosidosis Type I is a rare genetic disease that affects the brain, spinal cord, and many other organs, resulting in cellular death. Type I (infantile onset) is the most severe type, with manifestations starting around 10 months of age (range 3-18 months) with progressive dysfunction of the affected organs.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Urine testing that is positive for the presence of oligosaccharides (partially broken down sugars); Absent or deficiencies in activity of the enzyme alpha-L-fucosidase in blood or skin samples confirms the diagnosis.

Physical findings: Physical findings for individuals with Fucosidosis Type I include:

• Distinct facial features such as, flat face, depressed nasal bridge, and bulging forehead;

• Spasticity;

• Seizures;

• Progressive psychomotor and neurological deterioration;

• Joint contractures;

• Abnormal bone development;

• Enlargement of the heart, liver and spleen;

• Abnormal posture (bent arms, clenched fists, and legs held out straight, arms that are bent toward the body and wrists, and fingers that are bent and held on the chest);

• Delayed growth; and

• A characteristic “cherry red spot” may be noted on the retina.

 

ICD-9: 271.8

PROGRESSION

Pulmonary infection and neurological deterioration are the major causes of death, usually by age 10 years.

TREATMENT

Currently there is no cure for this disorder. Bone marrow transplantation (BMT) has been tried on an experimental basis, but not enough information is available to know if BMT is an effective treatment option.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical history and physical examination that describes the diagnostic features of the impairment;

• Documentation of mental and motor deterioration, seizures, skin findings, facial features, etc; and

• Laboratory investigation should include identification of the deficient enzyme activity in leucocytes, urine or skin fibroblasts.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.730 Galactosialidosis -- Early and Late Infantile Types

COMPASSIONATE ALLOWANCE INFORMATION

GALACTOSIALIDOSIS -- EARLY and LATE INFANTILE TYPES

ALTERNATE NAMES

Protective Protein/Cathepsin A Deficiency ; PPCA deficiency; Cathepsin A Deficiency of GSL; Deficiency of Cathepsin A; Lysosomal Protein Deficiency; Neuraminidase with Beta galactosidase deficiency; Goldberg Syndrome

DESCRIPTION

Galactosialidosis is a rare inherited disorder caused by a mutation of the CTSA gene. There are three types of galactosialidosis: early infantile, late infantile and juvenile/adult form.

The most severe form of galactosialidosis, the early infantile type, results in early onset of edema (may be prenatal); ascites, enlarged internal organs in the abdominal cavity (visceromegaly), and skeletal dysplasia (disproportionately short stature).

The late infantile type starts in the first year of life and shares many of the clinical features of early infantile type, but symptoms and neurological deterioration does not progress as rapidly. Intellectual disability is common.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: A direct assay system for protective protein/cathepsin A is available for prenatal diagnosis of galactosialidosis. After birth, the diagnosis is confirmed by reduced or absent beta-galactosidase enzymatic activity in white blood cells or in cultured skin fibroblasts. Urine tests may show excessive amounts of bound sialic acid and oligosaccharides (partially broken down sugars).

Physical findings : Physical findings for this conditions include:

• Distinctive facial features (short nose, flat face, large head, bulging forehead);

• Edema;

• Ascites;

• Umbilical or inguinal hernia;

• Retinal cherry red spot;

• Dysostosis multiplex;

• Vertebral deformities;

• Telangiectasias;

• Enlarged liver and spleen (hepatosplenomegaly);

• Enlarged heart (cardiomegaly);

• Seizures;

• Action myoclonus (abrupt spasms);

• Ataxia;

• Poor growth/short stature; and

• Developmental delays or intellectual disability.

 

ICD-9: 271.8

PROGRESSION

Signs of early infantile type galactosialidosis most often appear between birth and 3 months of age, with death usually occurring by one year of age due to renal or cardiac failure. Signs of late infantile type galactosialidosis appear around age 1.

TREATMENT

Currently there is no cure for this disorder. Treatment is supportive and symptomatic.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes the diagnostic features of the impairment;

  • Laboratory studies with documentation of reduced or absent beta-galactosidase enzymatic activity in white blood cells or in cultured skin fibroblasts; and

  • Urine tests with evidence of elevated amounts of oligosaccharides.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

 

Evaluate juvenile/adult onset galactosialidosis by the body systems involved on a case-by-case basis.

110.08 B

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.735 Glioma - Grade III and IV

COMPASSIONATE ALLOWANCE INFORMATION

GLIOMA – GRADE III and IV

ALTERNATE NAMES

High Grade Malignant Glioma; Malignant Glioma Grade III; Malignant Glioma Grade IV; Glioblastoma; Anaplastic Astrocytoma; Undifferentiated Glioma; Anaplastic Glioma; Anaplastic Oligodendroglioma; Anaplastic Oligoastrocytoma; Giant Cell Glioblastoma; Gliosarcoma; Epithelioid Glioblastoma; Diffuse Midline Glioma

DESCRIPTION

Glioma is a broad category of brain and spinal cord tumors that come from glial cells, the main brain cells that can develop into cancer. Approximately 80% of malignant brain tumors are gliomas. These gliomas are categorized as ependymomas, astrocytomas or oligodendrogliomas. The exact cause of malignant gliomas is unknown.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: MRI is the preferred diagnostic tool, however malignant gliomas are also diagnosed by CT scan and biopsy. Biopsy is often needed to establish the grade of the glioma.

Physical findings: Common signs and symptoms of malignant gliomas include:

• Headache;

• Nausea or vomiting;

• Confusion or a decline in brain function;

• Memory loss;

• Personality changes or irritability;

• Difficulty with balance;

• Urinary incontinence;

• Vision problems, such as blurred vision, double vision or loss of peripheral vision;

• Speech difficulties; and

• Seizures, especially in someone without a history of seizures.

ICD9: 191.0-9

PROGRESSION

Malignant gliomas can develop at any age. They tend to grow and become more malignant over time. The peak incidence generally occurs in the fifth and sixth decade of life. Prognosis is often poor for individuals with grades III and IV tumors with the average survival time approximately 12 months. Few individuals survive beyond three years with conventional treatment.

TREATMENT

Treatment depends on the location of the tumor and its progression. These tumors tend to grow or infiltrate into the normal brain tissue. Standard treatment is surgery followed by radiation therapy. If surgery is not an option, radiation therapy is given. Chemotherapy is sometimes given during or after radiation therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Pathology report documenting type and stage of tumor;

  • Operative reports; and

  • MRI or CT scans.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13A1&2

Grade III and IV gliomas meet the criteria in listing 13.13 A 1 & 2 upon confirmed diagnosis, regardless of effectiveness of treatment. Recurrent malignant gliomas meet 13.13A3 upon confirmed diagnosis, regardless of grade and effectiveness of treatment.

113.13A&B

Grade III and IV gliomas meet the criteria in listing 113.13 A & B upon confirmed diagnosis, regardless of effectiveness of treatment.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.745 Hepatoblastoma

COMPASSIONATE ALLOWANCE INFORMATION

HEPATOBLASTOMA

ALTERNATE NAMES

Pediatric Embryonal Hepatoma; Pediatric Hepatoblastoma; Liver Cancer – children; HB; HBL

DESCRIPTION

Hepatoblastoma (HB) is a type of liver tumor that usually affects children younger than 3 years. It is very rarely diagnosed in adolescence and is exceedingly rare in adults. If older children and adults have this disease, the prognosis tends to be worse than in younger children.

The cause of HB is generally unknown. Cirrhosis is not associated with this tumor. A common presentation in children is an asymptomatic abdominal mass.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : The diagnosis of HB is established by:

• CBC count with differential;

• Liver enzyme levels;

• Abdominal radiography/ultrasonography;

• CT scans/MRIs;

• Radionuclide bone scans;

• Positron emission tomography (PET) scans;

• Biopsies; and

• Pathology reports.

 

Physical findings:

• Swollen abdomen (belly) with a large mass;

• Pain in the belly;

• Pallor (pale skin);

• Fatigue;

• Decreased appetite;

• Weight loss; and

• Vomiting.

Other symptoms may include:

• Fever;

• Back pain; and

• Decreased urination.

 

ICD-9: 155.0

PROGRESSION

Staging of HB is based on the degree of surgical resection, histologic evaluation, and presence of metastatic disease. The most common sites for metastasis or spread of tumor are the lungs and abdominal lymph nodes.

TREATMENT

Treatment options include chemotherapy, radiotherapy, surgery to remove the tumor, and liver transplantation. When the tumor is determined to be non-resectable and there are no metastases, liver transplantation is the treatment of choice.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical history and examination that describes the diagnostic features of the impairment;

• Pathology reports;

• Imaging test results; and

• Results of biopsies.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.19

Hepatoblastoma occurs primarily in children. Hepatoblastoma meets listing 13.19 upon confirmed diagnosis, regardless of the effectiveness of treatment.

113.03

Hepatoblastoma occurs primarily in children. Hepatoblastoma meets the criteria in listing 113.03 upon confirmed diagnosis, regardless of the effectiveness of treatment.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.750 Histiocytosis Syndromes

COMPASSIONATE ALLOWANCE INFORMATION

HISTIOCYTOSIS SYNDROMES

ALTERNATE NAMES

Langerhans Cell Histiocytosis; LCH; Histiocytosis X; Malignant Histiocytosis syndrome T-cell lymphoma; Non-Langerhans Cell Histiocytosis; Hemophagocytic Syndrome; Pulmonary Histiocytosis X; Nonlipid Reticuloendotheliosis; Pulmonary Langerhans Cell Granulomatosis; Hand-Schuller-Christian disease; Letterer-Siwe disease; Rosai-Dorfman disease; Sinus Histiocytosis with Massive Lymphadenopathy

DESCRIPTION

Histiocytosis is a general name for a group of syndromes where immune cells known as histiocytes (monocytes/macrophages) proliferate and mistakenly attack the body instead of infections. There are three major types of histiocytosis:

• Class I - Langerhans cell histiocytosis (LCH; previously known as Histiocytosis X);

• Class II - Hemophagocytic lymphohistiocytosis (HLH; non-Langerhans); and

• Class III - T-cell Lymphoma, also known as malignant histiocytosis syndrome.

The excessive increase in the number of histiocytes may form inflammatory tumors in various body organs and bones, including the skull. For example, Langerhans cells infiltrating the lungs leads to inflammation and stiffening of the lungs. Tumors in weight-bearing bones, such as the legs or spine, may cause the bones to fracture without cause.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Biopsy of skin or bone marrow documenting the presence of Langerhans or T-cell lymphoma.

Diagnosing HLH requires a set of defined criteria, including:

• Hemophagocytosis on tissue biopsy;

• Cytopenia;

• Low fibrinogen levels;

• Splenomegaly;

• Fever; and

• Rash.

 

The following testing supports the diagnosis and provides information on clinical severity:

• Bone imaging studies;

• Complete blood counts (CBC);

• Bronchoscopy with biopsy;

• Chest x-ray; and

• Pulmonary function tests.

 

Physical findings: Symptoms and signs depend on specific organ involvement. In children, these may include:

• Abdominal pain;

• Rash;

• Bone pain;

• Delayed puberty;

• Growth failure due to pituitary involvement;

• Irritability;

• Failure to thrive;

• Mental deterioration;

• Seizures;

• Headache; and

• Frequent urination due to diabetes insipidus.

Children over age 5 usually only have bone involvement.

Adults may experience:

• Bone pain;

• Cough and shortness of breath;

• Fever;

• Frequent urination;

• Weight loss; and

• Rash.

 

ICD-9: 202.5, 277.89

PROGRESSION

LCH is relatively more common in children than in adults. The prognosis for children is highly variable, with infants and young children more likely to have systemic disease that leads to death. Adults with pulmonary histiocytosis X have a poor prognosis. In familial HLH, only 21-25% survives 5 years after diagnosis.

TREATMENT

These disorders are treated with corticosteroids, anti-cancer immunosuppressive drugs, radiation, and surgery, as well as supportive treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes the diagnostic features of the impairment;

  • Biopsy of affected organ system; and

  • Functional assessment of organ system involved (for example, pulmonary function tests).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

3.02

Listing level severity must be documented.

8.06

13.06 A

103.02

In children, solitary histiocytosis or eosinophilic granuloma treated with complete surgical excision does not meet listing level severity.

108.06

113.03

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.755 Hutchinson-Gilford Progeria Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

HUTCHINSON-GILFORD PROGERIA SYNDROME

ALTERNATE NAMES

HGPS; Hutchinson-Gilford Syndrome; Progeria Syndrome; Progeria of Childhood

DESCRIPTION

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition that produces rapid aging in children. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children grow and do not gain weight at the expected rate (failure to thrive). Over time, they develop a characteristic facial appearance, hair loss, aged-looking skin, joint abnormalities, and a loss of fat under the skin. Severe hardening of the arteries (arteriosclerosis) occurs at a young age. This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking. People with HGPS do not develop other disease processes associated with aging such as increased tumor formation, cataract development, or dementia.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : Genetic testing is for the LMNA gene mutation responsible for HGPS. Cardiac stress testing may show premature atherosclerosis of the coronary and other arteries.

Physical findings:

• Characteristic facial features (prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, protruding ears, delayed or abnormal formation of teeth);

• Skin hardening and toughening;

• Decreased subcutaneous fat;

• Alopecia; and

• Skeletal dysplasia with abnormalities in bone structure, skeletal strength, and decreased range of joint mobility.

ICD-9: 259.8

PROGRESSION

Children with HGPS usually appear normal at birth with signs of the disease occurring at age 6 – 12 months, with skin changes, alopecia, and failure to thrive. Children usually live to their teenage years with some individuals surviving into their early 20s. Premature atherosclerosis greatly increases the chance of heart attack or stroke at a young age, which is the usual cause of death.

TREATMENT

There currently is no cure for HGPS. Treatment is directed towards the monitoring and management of the manifestations of the disorder.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination documenting characteristic physical findings;

  • Genetic testing reports for LMNA mutation;

  • Imaging of the skeleton showing diffuse osteopenia/osteoporosis; and

  • MRI of the brain with evidence of cerebrovascular occlusive disease.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

104.02 A, B, or C

These cases may meet the criteria in listing 104.02 but probably not until the child is are more than 5 years old. Listing level severity must be documented.

105.08

These cases may meet the criteria in listing 105.08 but probably not until the child is more than 5 years old. Listing level severity must be documented.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.780 Infantile Free Sialic Acid Storage Disease

COMPASSIONATE ALLOWANCE INFORMATION

INFANTILE FREE SIALIC ACID STORAGE DISEASE

ALTERNATE NAMES

ISSD; Sialuria Infantile Form; Infantile Sialic Acid Storage Disorder; Free Sialic Acid Storage Disease; N-acetylneuraminic acid storage disease; NANA Storage Disease; Sialuria Finnish Type

DESCRIPTION

Infantile Free Sialic Storage Disease (ISSD) is the most severe form of sialic acid storage disease, a rare inherited metabolic disorder. Affected children lack the ability to transport sialic acid out of the cell, leading to abnormal accumulations that primarily affect the nervous system. Affected infants have severe developmental delay, hypotonia, and failure to gain weight and grow at the expected rate (failure to thrive). They may have unusual facial features that are often described as "coarse", bone malformations, hepatosplenomegaly, and cardiomegaly. The abdomen may be swollen due to enlarged internal organs and ascites. Affected infants may also have hydrops fetalis at birth. Seizures are common.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing :

  • Genetic testing for mutations in the SLC17A5 gene;

  • Lab testing shows elevated sialic acid levels in cultured tissue cells; and

  • Increased free sialic acid in the urine

Physical findings: Signs and symptoms of ISSD include:

• Hydrops fetalis;

• Failure to thrive;

• Increasing coarse facial features;

• Neurologic deterioration;

• Dysostosis (abnormal bone formation);

• Ataxia and hypotonia at approximately age one year;

• Developmental delay and growth delay in early childhood; and

• Severe cognitive and motor impairment.

ICD-9: 271.9

PROGRESSION

Onset of this disorder is at or even before birth. Children usually live only into early childhood.

TREATMENT

There is no current cure for this disorder. Treatment is supportive and may include physical, occupational and speech therapies; nutrition therapy; and anti-seizure treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • Laboratory testing for identified enzyme changes and elevated free sialic acid in cultured cells and the urine

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.800 Lymphomatoid Granulomatosis -- Grade III

 

COMPASSIONATE ALLOWANCE INFORMATION

LYMPHOMATOID GRANULOMATOSIS - GRADE III

ALTERNATE NAMES

Lymphomatoid Granulomatosis High Grade; Polymorphic Reticulosis; Lymph Angiitis and Granulomatosis; Malignant Lymph Angiitis and Granulomatosis; Pulmonary Angiitis; Lymphoproliferative Disease; LG High Grade; LG

DESCRIPTION

Lymphomatoid Granulomatosis (LG) is a rare, progressive malignant neoplastic disease in adults and children (although it is most common in people in the fifth and sixth decade), where nodular lesions destroy blood vessels. In addition, the lungs are usually affected. LG is composed of B-cells positive for Epstein Barr Virus and mixed with reactive T-cells. It often occurs in association with an underlying immunodeficiency state such as rheumatoid arthritis, organ transplantation, and human immune deficiency virus (HIV) infection. A grading system from Grade I to Grade III for LG is based on the number of atypical lymphocytes, EBV-positive B-cells and amount of tissue destruction (necrosis). The advanced form (grade III) of LG is approached clinically as a subtype of diffuse large B-cell non-Hodgkin lymphoma (NHL). The clinical features reflect systemic multi-organ disease with lung, skin, and central nervous system involvement.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Pathologic examination of tissue biopsy confirms the diagnosis. Imaging includes bone and chest X-rays, lymphangiography, CT scan, and MRI.

Physical findings: Physical findings: Pulmonary findings may include:

• Cough;

• Shortness of breath; and

• Chest pain.

Skin findings may include:

• Small red bumps;

• Lumps under the skin;

• Ulcers;

• Thickened patches; or

• Inflamed hair follicles.

Skin lesions usually do not cause symptoms but they can be tender or itchy.

Neurological findings may include:

• Cranial and peripheral nerve defects resulting in unsteadiness, blurred vision, weakness or numbness affecting facial muscles or hands and feet;

• Seizures;

• Altered cognition;

• Focal motor and sensory complaints; and

• Stroke syndromes.

ICD-9: 202.8

PROGRESSION

Grade III LG is usually progressive and fatal.

TREATMENT

There is no standard treatment for grade III LG, although surgery and chemotherapy may improve pain relief and neurological symptoms. Median survival is about 14 months; five-year survival is less than about 30%.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation: The adjudicator needs medical evidence from treating sources and hospitals. This evidence may include clinical history and examination that describe the diagnostic features of the impairment, imaging tests, biopsies, surgical procedures, and pathology reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.05 A

Grade III LG meets the criteria in listing 13.05 A upon confirmed diagnosis and without regard to effectiveness of treatment.

113.03

Grade III LG meets the criteria in listing 113.03 upon confirmed diagnosis and without regard to effectiveness of treatment.

113.05 A

Grade III LG meets the criteria in listing 13.05 A upon confirmed diagnosis and without regard to effectiveness of treatment.

Equals

13.13 A 1

Medically equals the criteria in listing 13.13 A 1 if grade III LG affects only the central nervous system.

113.13

Medically equals the criteria in listing 113.13 if grade III LG affects only the central nervous system.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.805 Malignant Brainstem Gliomas -- Childhood

 

COMPASSIONATE ALLOWANCE INFORMATION

MALIGNANT BRAINSTEM GLIOMAS -- CHILDHOOD

ALTERNATE NAMES

Childhood Malignant Brainstem Glioma; Malignant Brainstem Glioma- Childhood Diffuse Intrinsic; Malignant Brainstem Glioma; Diffuse Intrinsic Pontine Gliomas; DIPG; Malignant Brain Tumor; Pediatric Malignant Brain Tumor; Malignant Brain Tumor – Children

DESCRIPTION

Malignant Brainstem Gliomas are a common type of brain tumor that occurs in the region of the brain referred to as the brainstem. Approximately 80% of malignant pediatric brainstem gliomas arise within the pons. The majority of pontine tumors, diffuse intrinsic pontine gliomas (DIPG), are usually high-grade, aggressive, locally infiltrative, and have a uniformly poor prognosis. Diffuse intrinsic pontine gliomas meet the criteria in the listings upon confirmed diagnosis alone.

Brainstem gliomas are classified into four grades. Grades I and II are considered low grade; grades III and IV are considered high grade. Grades I and II are the slowest growing and least aggressive. In children, Grade II brain stem tumors meet the criteria in listing 113.13 C 2 if they are progressive or recurrent following initial anticancer therapy. Grade I tumors are generally considered benign, and we evaluate them under the neurological listing 111.05. Grade III and Grade IV childhood brain stem tumors are the fastest growing and most aggressive and meet the criteria in listings 113.13 A and B.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: MRI scans are the preferred tool to evaluate a brainstem tumor, although a CT scan may be performed in the rare circumstances where MRI is unavailable. A biopsy is seldom performed outside specialized biomedical research protocols for DIPG, unless the diagnosis of this tumor is in doubt.

Tumors also are characterized on the basis of:

• Site of origin;

• Direction and extent of tumor growth;

• Degree of brainstem enlargement;

• Presence or absence of cysts;

• Necrosis;

• Hemorrhage; and

• Hydrocephalus.

Physical findings: Although not pathognomonic of DIPG, signs and symptoms are related to location of the tumor and may include:

• Cranial nerve deficits;

• Loss of balance, difficulties with walking, worsening handwriting, or abnormal speech;

• Lack of coordination;

• General weakness or weakness on one side of the face;

• Unusual sleepiness or changes in energy level;

• Double vision;

• Increased intracranial pressure; and

• Headaches.

ICD-9: 191.7

PROGRESSION

The average age at diagnosis is 5 to 9 years of age. DIPG has a high rate of recurrence or progression. DIPG often follows an inexorable course of progression, despite therapy. A large majority of children die within a year of diagnosis.

TREATMENT

Standard anticancer therapy for brainstem glioma has not been established. Surgery is not usually performed because of the tumor’s infiltrating location in the brainstem; however, surgical procedure to reduce pressure inside the skull caused by hydrocephalus is common. Surgery may be performed if the tumor extends into the fourth ventricle.

Radiation is used to shrink the tumor, improve, stabilize or prolong life. New therapies have yielded little benefit over conventional treatment with radiotherapy alone. Unfortunately, recurrence usually occurs after 6 to 9 months of treatment.

Adjuvant chemotherapy is generally not used in children because efficacy has not been proven. Data suggest that pre-radiation chemotherapy may improve survival in diffuse intrinsic pontine gliomas. The effectiveness of chemotherapy at relapse is uncertain, but it may benefit some patients.

Individuals who have difficulty swallowing or diminished gag reflex may require gastrostomy tube placement. Individuals with frequent upper respiratory infections, pneumonia, or altered voice may require post-op ventilator assistance.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical history and examination that describe the diagnostic features of the impairment;

• Imaging tests;

• Pathology reports;

• Surgical reports;

• Pertinent treatment records; and

• Up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

113.13 A and B

Malignant brainstem gliomas occur more frequently in children. Grade III and Grade IV brainstem cancers in children, such as diffuse intrinsic pontine gliomas,; meet the criteria in listing 113.13 upon confirmed diagnosis alone.

113.13 C 2

Malignant brainstem gliomas occur more frequently in children. Grade III and Grade IV brainstem cancers in children, such as diffuse intrinsic pontine gliomas,; meet the criteria in listing 113.13 upon confirmed diagnosis alone.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.815 Mastocytosis Type IV

 

COMPASSIONATE ALLOWANCE INFORMATION

MASTOCYTOSIS TYPE IV

ALTERNATE NAMES

Leukemic Mastocytosis; Mast Cell Leukemia; MCL; Lymphadenopathic Mastocytosis; Mast Cell Sarcoma

DESCRIPTION

Mastocytosis is a rare neoplastic disorder that occurs when there is an abnormal accumulation (excess) of mast cells in the blood and bone marrow, skin, gastrointestinal tract (GI), liver and spleen. Mastocytosis can be cutaneous (skin) or systemic (involving the internal organs of the body). Depending on the number of mast cells in the different organ parts, it is classified as either indolent (slow growing) or aggressive.

People with Mastocytosis Type IV have mast cell leukemia. Type IV is the most severe form of mastocytosis marked by malignant proliferation of mast cells in the blood, no skin involvement, multi-organ failure, and a short survival. Type IV is generally defined as having at least 10% abnormal mast cells in the peripheral blood or at least 20% abnormal mast cells in the bone marrow.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Diagnostic testing for Mastocytosis Type IV includes:

• Skin exam;

• Bone marrow biopsy;

• Plasma tryptase; and

• Urine mediators such as histamine.

Imaging testing can include skeletal survey and gastrointestinal evaluation. Bone scans and bone marrow testing are conclusive.

Physical findings: Signs and symptoms of this condition include:

• Anemia and bleeding disorders;

• Gastrointestinal symptoms such as abdominal pain, diarrhea, nausea, or vomiting;

• Itching, hives, or flushing of the skin;

• Anaphylactoid reactions;

• Enlarged liver (hepatomegaly);

• Enlarged spleen (splenomegaly); and

• Enlarged lymph nodes (lymphadenopathy).

ICD-9: 202.6

PROGRESSION

The median age at diagnosis of the severe form of mastocytosis in adults is 55 years of age. Type IV has also occurred in children as young as 4 years old. The prognosis for people with type IV mastocytosis is poor with survival time of a few months once the diagnosis is established.

TREATMENT

There is no current cure or standard treatment for mastocytosis type IV. Severe forms of mastocytosis have been treated with chemotherapy, immunotherapy, stem cell or bone marrow transplantation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• A thorough history of illness;

• Oncology, hematology, dermatology, immunology consultation reports;

• Pathology reports; and

• Imaging study reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.06 A

Mastocytosis Type IV meets the criteria in listing 13.06 A upon confirmed diagnosis, regardless of effectiveness of treatment.

113.06 A

Mastocytosis Type IV meets the criteria in listing 113.06A upon confirmed diagnosis, regardless of effectiveness of treatment.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.825 Merkel Cell Carcinoma – with metastases

COMPASSIONATE ALLOWANCE INFORMATION

MERKEL CELL CARCINOMA

ALTERNATE NAMES

Merkel Cell Cancer; Trabecular Cancer; Apudoma of Skin; Small Cell Neuroepithelial Tumor of Skin; Primary Small Cell Carcinoma of Skin; Toker Tumor; Primary Cutaneous Neuroendocrine Tumor; Malignant Trichodiscoma; Neuroendocrine Carcinoma of the Skin

DESCRIPTION

Merkel Cell Carcinoma (MCC) is a rare, aggressive skin cancer that forms in the outer layer of the skin (epidermis). MCC often appears in areas of the skin exposed to the sun, such as the head and neck, arms, legs, and trunk. However, MCC may also develop anywhere on the body, even on areas not exposed to sunlight. MCC with Metastases occurs when the tumor spreads to other parts of the body. MCC that has metastasized has a significantly higher mortality than malignant melanoma of the skin.

The incidence of MCC is somewhat greater for males. It is most common in people older than age 50, although it can occur at any age.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : Diagnosis is made with a sentinel lymph node biopsy and immunohistochemical stains. Blood tests, such as liver function tests, may be used to detect the spread of MCC to internal organs. MCC is difficult to diagnose through imaging studies in its early stages.

Physical findings : The first sign of MCC is usually a fast-growing, painless nodule (tumor) on the skin. The shiny nodule may be skin colored or may appear in shades of red, blue or purple that initially may be mistaken as a benign cyst. Most MCCs appear on the face, head or neck, but they can develop anywhere on the body, even on areas not exposed to sunlight.

Physical exam may reveal the following findings:

• A new skin lesion;

• An enlarged lymph node; and

• An enlarged liver.

 ICD-9: 209.31 – 209.36, 209.75

PROGRESSION

MCC metastasizes quickly and spreads to other parts of the body, tending towards the regional lymph nodes. The tumor tends to invade underlying subcutaneous fat, fascia, and muscle. MCC has an extremely poor prognosis after it has spread to distant sites, especially the organs (such as, liver, lung, bone, or brain). For people with positive lymph nodes, median survival is 13 months compared to 40 months in those people with negative nodes.

TREATMENT

Treatment for MCC is based on the stage and location of the lesion, and whether the tumor has spread to the lymph nodes or other parts of the body. Treatment may consist of: 1) surgical excision of the primary lesion, 2) lymph node surgery, 3) radiation therapy, and 4) chemotherapy. Chemotherapy is usually reserved for late stage MCC, and mostly as a palliative therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• A biopsy confirming the diagnosis of MCC.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.03 A

MCC with metastases to or beyond the regional lymph nodes meets the criteria in listing 13.03 A.

13.03 B

MCC that invades deep extradermal structures meets the criteria in listing 13.03B.

113.03

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.835 Nephrogenic Systemic Fibrosis

COMPASSIONATE ALLOWANCE INFORMATION

NEPHROGENIC SYSTEMIC FIBROSIS

ALTERNATE NAMES

Nephrogenic Fibrosing Dermopathy; NSD; NSF

DESCRIPTION

Nephrogenic Systemic Fibrosis (NSF) is a rare disease involving severe thickening and hardening of the skin (fibrosis) overlying the extremities and trunk. The cause of nephrogenic systemic fibrosis is attributed to the connexation of renal insufficiency and gadolinium exposure from imaging studies. The exact degree of renal insufficiency that sets up the development of nephrogenic systemic fibrosis is not known. Risk factors include advanced chronic kidney disease (stages 3, 4 and 5) and acute or chronic inflammatory insults.

Symptoms of NSF include painful, burning itching skin, red/dark areas on the skin, skin thickening, edema, loss of flexibility and severe limitations in movement at the joints of the ankles, knees, feet, arms, wrists, and hands, and raised yellow discoloration on sclera. Fibrosis (thickening) involving the internal organs, including the lungs (with reduced diffusing capacity for carbon monoxide) and diaphragm (with respiratory failure), myocardium, pericardium and pleura has been reported. NSF affects males and females in approximately equal numbers. NSF may occur in children but most commonly affects the middle-aged.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : Diagnostic testing may include positive antinuclear antibody tests and the presence of hepatitis B or C. All people affected with NSF have a history of renal insufficiency of varying severity and duration and gadolinium exposure. A small number of individuals have primarily liver disease. Most individuals have had treatments that include hemodialysis, peritoneal dialysis or renal transplantation. However, neither dialysis nor renal transplantation is a prerequisite for NSF. Histological findings may include thickened collagen bundles with surrounding clefts, early lesions and spindle cells.

Physical findings: Symptoms of NSF include:

• Painful, burning itching skin;

• Red/dark areas on the skin;

• Skin fibrosis (scarring/thickening);

• Edema;

• Loss of flexibility and severe limitations in movement at the joints of the ankles, knees, feet, arms, wrists, and hands;

• Raised yellow discoloration on sclera; and

• Fibrosis involving the internal organs, including the lungs (with reduced diffusing capacity for carbon monoxide) and diaphragm (with respiratory failure), myocardium, pericardium and pleura.

ICD-9: 701.8

PROGRESSION

NSF is a debilitating and sometimes fatal disease. People with a fulminant (disease developing or progressing suddenly) form of NSF may become wheelchair dependent within weeks due to development of flexion contractures and loss of mobility. Death may result from complications of kidney disease or transplant surgery. In addition, fractures and falls from wheelchair dependency may be fatal.

TREATMENT

NSF is usually a chronic progressive condition. Rare cases of partial to complete spontaneous resolution have been reported in the absence of specific therapy, with the return of renal function. A favorable response to medical intervention is anecdotal. Of all treatments, extracorporeal photopheresis (ECP) seems to provide the best, albeit mild and extremely expensive treatment modality for nephrogenic systemic fibrosis.

Steroids and massage therapies may be used to decrease the discomfort associated with skin thickening and connective tissue formation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical information documenting chronic kidney disease;

  • Clinical examination including description of fibrotic changes and description of functional limitations; and

  • Laboratory studies documenting serum creatinine in the blood.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

6.03

Use 6.03 when the claimant is on dialysis.

106.03

Use 106.03 when the claimant is on dialysis.

106.05

Use 106.05 when the lab findings are at the required level.

Equals

1.02 A or B

Consider respiratory or cardiovascular listings, as appropriate, when the fibrosis affects the lungs or heart.

6.05

14.04

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.840 Obliterative Bronchiolitis

 

COMPASSIONATE ALLOWANCE INFORMATION

OBLITERATIVE BRONCHIOLITIS

ALTERNATE NAMES

Bronchiolitis Obliterans; Constrictive Bronchiolitis

DESCRIPTION

Obliterative Bronchiolitis (OB) is a rare, irreversible, life-threatening form of lung disease that occurs when the small airway branches of the lungs (bronchioles) are compressed and narrowed by scar tissue (fibrosis) and inflammation. Extensive scarring results in decreased lung function. Causes of OB include collagen vascular diseases, especially rheumatoid arthritis, organ transplant rejection, viral infections, drug reactions, prematurity complications, , oral emergency medicines (for example, activated charcoal), exposure to toxic fumes (for example, diacetyl, sulfur dioxide, ammonia, chlorine, mustard gas, ozone), and idiopathic (no known cause). Symptoms of OB include coughing (usually without phlegm), shortness of breath on exertion, wheezing and fatigue,

OB is not the same disorder as bronchiolitis obliterans organizing pneumonia (BOOP), now known as cryptogenic organizing pneumonia (COP), which is a treatable disorder with a favorable prognosis. OB is also a distinctly different disorder than pediatric bronchiolitis, which is a very common childhood respiratory illness with a good prognosis.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Although a definitive diagnosis of OB requires can only made by a lung biopsy, other diagnostic tests which aid in the diagnosis include:

• Lung volume measurements showing an elevated residual volume and chest x-ray with evidence of hyperinflation;

• High resolution computerized tomography (CT) of the chest at full inspiration and expiration showing evidence of heterogeneous air trapping, mosaic attenuation, bronchial wall thickening, cylindrical bronchiectasis, or scattered ground glass opacities; and

• Spirometry which typically shows airway obstruction that is generally unresponsive to bronchodilators. A restrictive pattern may be seen in some cases.

Physical findings:

• Dry cough;

• Shortness of breath;

• Fatigue and wheezing in the absence of a cold or asthma.

ICD-9: 491.8

PROGRESSION

The progression of OB varies from person to person with symptoms starting either gradually or suddenly. Two to eight weeks after a respiratory illness or exposure to toxic fumes, dry cough, shortness of breath (especially on exertion), fatigue, and wheezing may occur. Severe cases may require a lung transplant. Post-lung transplantation, OB continues to be a major life-threatening complication, affecting up to 50% of people who survive five years after transplantation.

TREATMENT

There is currently no cure for OB. Bronchodilators, inhaled corticosteroids, oxygen supplementation, and, in the case of lung transplantation, immunosuppressants, are prescribed to control symptoms. Response to treatment is generally poor.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes diagnostic features and physical findings;

  • Biopsy reports;

  • CT scans;

  • Pulmonary function tests ( PFTs) including diffusing capacity of the lungs for carbon monoxide (DLCO) tests, spirometry, and arterial blood gas (ABG) tests; and

  • Response, if any, to a regimen of treatment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

3.02

A description of findings establishing the diagnosis and response to treatment is needed when evaluating this condition.

103.02

A description of findings establishing the diagnosis and response to treatment is needed when evaluating this condition.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.855 Pearson Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

PEARSON SYNDROME

ALTERNATE NAMES

Pearson Marrow Pancreas Syndrome; Sideroblastic Anemia with Marrow Cell Vacuolization and Exocrine Pancreatic Dysfunction; Pearson Anemia

DESCRIPTION

Pearson Syndrome is a type of rare inherited multisystem disorder caused by mitochondrial mutations, leading to progressive bone marrow failure and pancreas dysfunction. This results in severe anemia, variable low platelet and neutrophil counts, pancreatic insufficiency, and poor growth. Associated features may include insulin-dependent diabetes, muscle and neurological involvement, and liver and kidney dysfunction. The diagnosis of Pearson syndrome is usually made in the first year of life.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: A confirmed diagnosis is documented by molecular genetic analysis showing deletions in mitochondrial DNA. Other lab studies include:

• Bone marrow analysis;

• Complete blood cell and reticulocyte counts; and

• Metabolic studies including electrolytes, lactic acid, bilirubin, and albumin.

Physical findings:

• Poor growth/failure to thrive;

• Hepatosplenomegaly (enlarged liver and spleen); and

• Pallor (pale skin).

ICD-9: 277.87

PROGRESSION

Most children with Pearson syndrome die in infancy or early childhood due to bacterial sepsis resulting from neutropenia, metabolic crisis, or hepatic failure. The few persons surviving into adulthood often develop Kearns-Sayre syndrome, a rare neuromuscular disorder.

TREATMENT

There is no specific treatment for Pearson syndrome. Treatment is supportive and symptomatic. Chronic red blood transfusions are required to treat anemia. Neutropenia may be treated with colony stimulating factor. Pancreatic enzyme replacement treats malabsorption due to exocrine pancreatic insufficiency.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical history and examination that describes the diagnostic features of the impairment; and

• Results of molecular genetic analysis showing deletions in mitochondrial DNA.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

107.10

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.870 Peripheral Nerve Cancer – metastatic or recurrent

COMPASSIONATE ALLOWANCE INFORMATION

PERIPHERAL NERVE CANCER

ALTERNATE NAMES

Malignant Peripheral Nerve Sheath Tumor; Malignant Neurilemmoma; MPNST; Sporadic Neurofibromatosis Type I; Neurofibromatosis Type I; Malignant Neurofibrosarcoma; Malignant Schwannoma; Malignant Tumor of the PNS; Malignant Neoplasm of the PNS; Malignant PNS Tumor; Malignant PNS Neoplasm; Neurosarcoma; Neurogenic Sarcoma; Malignant Neuroma

DESCRIPTION

Peripheral Nerve Cancer is a rare malignant tumor that develops in the tissue (sheath) covering the peripheral nerves. The peripheral nervous system includes the nerves that travel from the brain and spinal cord (central nervous system) to other parts of the body. The nerve sheath is the soft tissue that covers the nerve. This type of cancer occurs most commonly along the nerves that run from the buttocks to the legs (sciatic nerves), neck to the arms or within the pelvis. Peripheral Nerve Cancer that is metastatic or recurrent indicates that the malignant tumor has spread to other parts of the body, and has come back after treatment. This type of cancer generally occurs in adulthood between the ages of 20 and 50 years of age and may occur in childhood. Survival rates for metastatic and recurrent disease are poor, regardless of patient age.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Diagnostic testing for peripheral nerve cancer include:

• MRIs;

• X-rays;

• CT scans;

• PET scans; and

• Bone scan to determine the location, size, and shape of the tumor and metastasis.

The only definitive diagnosis of peripheral nerve cancer is a biopsy of the tumor.

Physical findings: Most peripheral nerve cancers do not present with neurological symptoms.

ICD-9: 237.7, 237.9

PROGRESSION

Peripheral nerve cancers are highly aggressive tumors. The prognosis for people with unresectable tumors (tumors that cannot be surgically removed) is poor. Survival rates vary depending on the location and extent of the tumor, including any metastasis.

TREATMENT

Malignant peripheral nerve cancers are aggressive tumors that require a combination of surgery, chemotherapy or radiation. Complete resection of the tumor carries the longest survival rate.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• A pathology report of the tumor biopsy and of any metastasis; and

• If a pathology report is unavailable, a surgical report or radiological studies especially X-rays, MRI scans, CT scans, or PET scans may be substituted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 B

Primary adult peripheral nerve cancer meets the criteria in listing 13.13 B and requires documented metastases or recurrence.

Equals

113.13 C

Primary pediatric peripheral nerve cancer medically equals the criteria in 113.13 C and requires documented metastases or recurrence.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.880 Rhabdomyosarcoma

COMPASSIONATE ALLOWANCE INFORMATION

RHABDOMYOSARCOMA

ALTERNATE NAMES

Alveolar Rhabdomyosarcoma; Embryonal Rhabdomyosarcoma; Sarcoma Botryoides

DESCRIPTION

Rhabdomyosarcoma is a cancerous tumor of unknown cause that occurs mostly in children and teenagers. It grows in the soft tissues of the body, particularly in the muscles that attach to bone and help the body to move. The most common sites for this tumor include the head, neck, bladder, vagina, arms, leg, and trunk. Rhabdomyosarcoma can also be found in places where skeletal muscles are absent or very small, such as in the prostate, middle ear and bile duct system. Symptoms include tumors that may lead to bleeding, congestion, swallowing problems, neurological problems, eye and vision problems, urination or bowel problems, and movement abnormalities.

Determining the severity of the condition is based on clinical groups and stages. There are 4 clinical groups:

• I,

• II,

• III, and

• IV.

Groups I, II, and III may have evidence of spread to lymph nodes but none to distant sites. Group IV has spread to lymph nodes and distant sites.

There are 4 stages: Stages I, and II, do not have evidence of spread to lymph nodes or distant sites. Stage III has local lymph node envolvement and Stage IV has spread to distant lymph nodes or distant sites.

Group IV, Stage IV is the most severe. It has the lowest survival rate. Rhabdomyosarcoma is much more common in children than adults.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : Diagnosis is often delayed because of a lack of symptoms or physical findings, and because the tumor may appear at the same time as a recent injury. A complete physical examination should be done.

Tests include:

• Biopsy of tumor;

• X-rays;

• CT scan of tumor site and chest (to look for spread of tumor);

• PET scan; bone scan;

• Bone marrow biopsy;

• MRI of tumor site;

• Blood and urine tests; and

• Spinal tap (lumbar puncture) to check the cerebrospinal fluid.

Physical findings: Symptoms of rhabdomyoscarcoma may include:

• Headache;

• A tumor or mass that can be seen or felt (may or may not be painful);

• Bleeding from the nose, ears, vagina, rectum, or throat (may occur if the location of the tumor is in these areas);

• Tingling, numbness, pain, and movement may be affected if the tumor compresses nerves in the area;

• Protrusion of the eye or a drooping eyelid (may indicate a tumor behind the eye);

• Trouble urinating and blood in the urine; and

• Difficulty with bowel movements.

ICD-9: 171.9

PROGRESSION

Rhabdomyosarcoma usually occurs in two distinct groups: children age five and under, and adolescents 14-20 years of age. Generally, children with Stage IV rhabdomyosarcoma have a 5-year survival rate of 20 to 25%. Survival rates for Stages I, II, and III are much higher (60 to 90%). While aggressive treatment is usually necessary, most children with rhabdomyosarcoma will achieve long-term survival. Treatment may include surgery, chemotherapy, radiation, and stem cell (bone marrow) transplant.

TREATMENT

The specific type of tumor, its size, its location, and the amount that it has spread determines the type of treatment for rhabdomyosarcoma. Clinical group and stage (described in “Description”) determine the type of treatment. Rhabdomyosarcoma that continues to grow during treatment or that comes back once treatment is finished is often resistant to subsequent treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination;

  • Biopsies;

  • Imaging tests;

  • Surgical notes;

  • Pertinent treatment records; and

  • Up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

Rhabdomyosarcoma in adults, the criteria in listing 13.04 is met with evidence of regional or distal metastases, or persistent or recurrent following initial antineoplastic therapy.

113.03

Rhabdomyosarcoma of any grade in children meets the criteria in listing 113.03.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.885 Rhizomelic Chondrodysplasia Punctata

COMPASSIONATE ALLOWANCE INFORMATION

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA

ALTERNATE NAMES

RCDP; RCP; Chondrodysplasia Punctata Rhizomelic; Rhizomelic Chondrodysplasia Punctata Classic Type; Rhizomelic Chondrodysplasia Punctata Type 1; RCDP1; Rhizomelic Chondrodysplasia Punctata Type 2; RCDP2; Rhizomelic Chondrodysplasia Punctata Type 3; RCDP3

DESCRIPTION

Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare, inherited disorder that results in congenital skeletal abnormalities with shortening of proximal long bones, distinctive facial features, intellectual disability, and recurrent respiratory problems. Painful joint contractures, poor growth, cataracts developing in infancy, hearing loss, and seizures also occur frequently. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis is confirmed by biochemical or genetic testing of the gene mutation resulting in abnormal enzyme activity:

  • Type 1-- peroxisomal enzyme function, including red blood cell concentration of plasmalogens (deficient), plasma concentration of phytanic acid (elevated), and plasma concentration of very long chain fatty acids (VLCFA) (normal) (PEX7);

  • Type 2 -- glyceronephosphate O-Acyl transferase (GNPAT);

  • Type 3 -- alkyldihydroxyacetonephosphate synthase (AGPS).

Physical findings:

• Developmental delays;

• Growth failure;

• Cataracts;

• Midface hypoplasia (prominent forehead, widely set eyes, sunken appearance of the middle of the face, small nose with upturned nostrils, and full cheeks);

• Shortening of bones in upper extremities and femurs; and

• Joint contractures.

ICD-9: 277.86

PROGRESSION

Most survive only into childhood; it is rare for an affected child to live past age 10. Death is usually caused by recurrent respiratory infections.

TREATMENT

There is no current cure for RCDP. Treatment is supportive and many include physical therapy, anti-seizure medication, hearing amplification, and cataract removal.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes diagnostic features of the impairment;

  • Genetic testing to confirm the diagnosis; and

  • Development assessment or psychological testing to address allegations of mental impairment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.890 Schindler Disease -- Type I

COMPASSIONATE ALLOWANCE INFORMATION

SCHINDLER DISEAS -- TYPE I

ALTERNATE NAMES

Neuroaxonal Dystrophy Schindler type; Alpha-N-Acetylgalactosaminidase Deficiency Type 1; NAGA Deficiency Type 1; Alpha NAGA Deficiency Schindler Type; Schindler Disease Type 1 Infantile Onset; Schindler Disease Infantile Type; Schindler Disease Classic Form

DESCRIPTION

Schindler Disease -- Type I is a rare inherited neurodegenerative disorder that is caused by mutations in the NAGA gene. The abnormal activity of the NAGA gene causes intracellular accumulations of glycoproteins and glycolipids and eventual cell death. The most affected organ is the central nervous system. Schindler Disease -- Type 1 is the most severe type of this disorder and has an infantile onset.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Blood cells or skin biopsies document reduced or absent NAGA enzyme activity.

Physical findings:

• Neurodevelopmental regression;

• Profound intellectual disability;

  • Nystagmus (uncontrolled eye movements);

• Visual impairment; and

• Hypotonia (floppy muscle tone) that later evolves into muscle hypertonicity and rigidity.

ICD-9: 271.8

PROGRESSION

Infants with this disease have normal physical development during the first months of life after which they experience developmental regression beginning at 8 – 15 months. Worsening muscle tone and decreased movement, vision loss and seizures may become evident as the disease progresses.

TREATMENT

There is no current cure for this disease. Treatment is supportive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • Laboratory findings with decreased activity of alpha-NAGA

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator

DI 23022.895 Smith Lemli Opitz Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

SMITH LEMLI OPITZ SYNDROME

ALTERNATE NAMES

SLO Syndrome; SLOS; RSH Syndrome; DHCR7 Deficiency; Smith-Lemli-Optiz Syndrome Type II

DESCRIPTION

Smith Lemli Opitz Syndrome (SLOS) is an inherited genetic disorder that results in an enzyme deficiency (7-dehydrocholesterol reductase, or 7-DHC reductase) necessary for cholesterol metabolism. Toxic byproducts of disrupted cholesterol synthesis build up in the blood, nervous system, and other tissues, disrupting the growth and development of many body systems. SLOS is characterized by multiple congenital malformations that are so severe that the fetus is often miscarried or still-born, or the infant dies within the first weeks of life. Surviving infants have dysmorphic facial features, microcephaly, toe abnormalities, and developmental delay. Many affected children have features of autism, and physical malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia. Feeding difficulties and failure to thrive are common. Vision loss due to cataracts and optic nerve abnormalities, and hearing loss may also occur.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: A definitive diagnosis of SLOS is by the measurement of plasma sterols, including cholesterol and genetic testing for evidence of mutations in the DHCR7 gene.

Physical findings:

• Microcephaly;

• Characteristic facial features such as broad nose, small lower jaw, and low set ears; and

• Hypotonia (floppy muscle tone).

These infants may also have:

• Webbing of the second and third toes (syndactyly);

• Extra fingers or toes (polydactyly);

• Cleft palate;

• Heart and lung defects;

• Brain malformations; and

• Hearing loss.

ICD-9: 272.8

PROGRESSION

SLOS is a genetic condition that is present prior to birth but has signs that are so subtle that detection is not made until later childhood. Most cases identified at birth or shortly after birth are due to obvious birth defects. Mildly affected individuals may have only minor physical abnormalities with learning and behavior problems Some children with SLOS may have more severe intellectual impairments, multi-organ system failure, and behavior problems that can include antisocial, self-destructive, or violent acts; or withdrawal, self-stimulation, and autism.

TREATMENT

There is no current cure for SLOS. Treatment is supportive and may include surgery to repair physical conditions, such as heart defects, cleft palate, or foot deformities. Hearing aids may benefit those with hearing loss. Gastrostomy feeding may be necessary for nutritional needs.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes diagnostic features of the impairment;

  • Laboratory findings;

  • Imaging studies of affected organs (brain, kidneys, heart, or lungs); and

  • Psychological testing with evidence of intellectual impairment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

 

110.08 B

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.900 Spinal Nerve Root Cancer – metastatic or recurrent

COMPASSIONATE ALLOWANCE INFORMATION

SPINAL NERVE ROOT CANCER

ALTERNATE NAMES

Tumor- Spinal cord; Spinal Root Neoplasm; Spinal Cord Tumor

DESCRIPTION

Spinal Nerve Root Cancer is the growth of cancerous cells arising from the nerve roots rather than the spinal cord (part of the CNS) and usually occurs in the lumbar spine. Spinal Nerve Root Cancer that is metastatic or recurrent occurs when the malignant cancer cells have spread from the nerve roots to other parts of the body, and has come back after treatment. Symptoms of spinal nerve root cancer are related to compression of the nerve tissue or ceramic structures and may include non-mechanical back pain in the middle or lower back, loss of sensation or muscle weakness, difficulty walking, loss of bowel or bladder function, erectile dysfunction, varying degrees of paralysis, and scoliosis of other spinal deformity.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : Diagnostic testing used to confirm the diagnosis of spinal nerve root cancer includes:

• MRI of lumbar spine;

• CT scan or CT myelogram of the lumbar spine;

• Cerebrospinal fluid (CSF) examination;

• Myelogram; and

• Spine x-ray.

A biopsy is used to help determine the grade of the cancer. A neurological examination may help to identify the location of the tumor.

Physical findings: A physical examination may show evidence of:

• Abnormal reflexes;

• Increased muscle tone;

• Loss of pain and temperature sensation;

• Muscle weakness; and

• Tenderness in the spine.

ICD-9: 171.9

PROGRESSION

The outcome of spinal nerve root cancer varies depending on the location, size, and extent (including metastases) of the cancer. Early diagnosis and treatment usually leads to a better outcome. Nerve damage often continues after surgery often leading to neurologic dysfunction. Although some amount of permanent dysfunction is likely, treatment may delay death.

TREATMENT

The goal of treatment is to reduce or prevent nerve damage from pressure (compression of) on the spinal cord. Corticosteroids are prescribed to reduce inflammation and swelling around the spinal cord. Surgery is used to remove as much of the tumor as possible and to relieve pressure on the spinal cord. Radiation including radiosurgery (SRS) therapy is used with, or instead, of surgery. Chemotherapy may be used in some cases, but it has not been proven effective against most spinal tumors.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• A pathology report; and

• If a pathology report is unavailable, a report or radiological studies such as MRI and CT scans may provide the required information.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 B

Requires documented metastases or recurrence.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.915 Wolf-Hirschhorn Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

WOLF-HIRSCHHORN SYNDROME

ALTERNATE NAMES

WHS; Chromosome 4p Deletion Syndrome; Chromosome 4p Monosomy; Del(4p) Syndrome; Monosomy 4p; Partial Monosomy 4p; Pitt-Rogers-Danks Syndrome; PRDS

DESCRIPTION

Wolf-Hirschhorn Syndrome (WHS) is a genetic condition caused by loss of genetic material in the short arm of chromosome 4. The size of the deletion can vary among persons and determines the type and severity of the condition(s). The loss is associated with early deficits in physical and mental development.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Diagnosis is based on characteristic clinical findings and confirmed by genetic testing showing deletion of the critical gene region (WHSCR).

Genetic testing may include cytogenetic analysis, molecular genetic testing and clinical testing (i.e. Fluorescence in situ hybridization (FISH)) deletion duplication analysis).

Physical findings:

• Craniofacial defects (dysmorphic facial features);

• Microcephaly;

• Facial stigmata;

• Prenatal-onset of growth deficiency followed by growth delay;

• Hypotonia (floppy muscle tone); and

• Muscle underdevelopment.

Other findings include:

• Skeletal anomalies, such as scoliosis or kyphosis;

• Congenital heart defects;

• Conductive hearing loss;

• Seizures;

• Skin changes, such as mottled or dry skin;

• Missing teeth;

• Cleft palate or cleft lip; and

• Abnormalities of the eyes, genitourinary tract, and brain have also been reported.

Delayed intellectual development is variable but present in all. Moderate to profound intellectual disability is estimated present in 85% of those affected. Expressive language is limited to guttural sounds and simple sentences.

ICD-9: 758.39

PROGRESSION

Delayed growth and development begins before birth. Affected infants have problems with feeding and weight gain (failure to thrive) and hypotonia. These children have delayed development in areas involving the ability to sit, stand, and walk. Most children with this disorder have a short stature.

TREATMENT

Treatment includes standard modalities for physical defects and special therapies directed toward developmental and communicative deficits. Gastrostomy may be needed in infancy to protect the airway of children with major feeding difficulty.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Genetic laboratory findings are needed to confirm the diagnosis;

  • Imaging may show delayed bone maturation, anterior fusion of vertebrae, fused ribs, dislocated hips, proximoral radioulner synostosis, and club feet; and

  • Developmental assessment or psychological testing to address allegations of mental impairment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.920 Xeroderma Pigmentosum

 

COMPASSIONATE ALLOWANCE INFORMATION

XERODERMA PIGMENTOSUM

ALTERNATE NAMES

XP; DeSanctis-Cacchione Syndrome; Xeroderma Pigmentosum Variant Type; XP-V

DESCRIPTION

Xeroderma Pigmentosum is a rare inherited disorder characterized by extreme skin sensitivity to all forms of ultraviolet light, abnormal skin pigmentation, and a high frequency of skin cancer, especially on sun-exposed skin. Other characteristics of XP are eye problems (including photophobia, some disturbance in vision, and both malignant and non-malignant growths), neurological problems, and mental disorders.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : XP is diagnosed by genetic lab studies documenting chromosomal breakage and abnormal DNA repair in cells exposed to ultraviolet light.

Physical findings: Physical findings include:

• Photosensitivity;

• Clouding of the cornea;

• Keratitis (inflammation of the cornea);

• Blepharitis (inflammation of the eye lids);

• Pigmentary changes;

• Skin cancers;

• Rough-surfaced growths (solar keratoses); and

• Premature aging of eyes, lips, mouth, and tongue.

ICD-9: 757.33

PROGRESSION

Individuals with XP usually exhibit symptoms around six months of age. These symptoms include severe sunburn after a few minutes in the sun, redness and blistering that can last for weeks, and freckling of the skin exposed areas, such as face, arms, and lips. Skin cancer can occur before the age of five, with most people with XP developing multiple skin cancers during their lifetime. XP may result in death in early adulthood due to skin cancer.

TREATMENT

There is no cure for this condition. Persons with this condition require total protection from all forms of ultraviolet light (including sunlight coming through windows and fluorescent bulbs). The use of sunscreens with other sun-avoidance methods such as protective clothing, hats, and eyewear can minimize UV-induced damage for individuals with XP.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• A report from an acceptable medical source diagnosing XP with definitive genetic lab studies including UV-induced chromosomal changes with abnormal DNA repair, complementation studies, and gene sequencing; and

• Skin biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

8.07

 

108.07

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.921 Adult Non-Hodgkin Lymphoma

COMPASSIONATE ALLOWANCE INFORMATION

ADULT NON-HODGKIN LYMPHOMA

ALTERNATE NAMES

Lymphoma - non-Hodgkin's; Lymphocytic lymphoma; Histiocytic lymphoma; Lymphoblastic lymphoma; Cancer - non-Hodgkin's lymphoma

DESCRIPTION

Adult Non-Hodgkin Lymphoma (NHL) is a type of cancer that starts in the lymphatic system, which in turn allows spread to other organs and tissues in the body. Adult NHL is categorized into three grades:

• Low grade or indolent, which are slow growing lymphomas;

• Intermediate grade or aggressive and faster growing lymphomas; and

• High-grade or highly aggressive and very fast growing lymphomas.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : Diagnostic testing for Adult NHL includes:

• Blood chemistry studies;

• CT scan;

• PET scan;

• MRI; and

• Bone marrow aspiration and biopsy.

Physical findings: Adult NHL may cause different signs and symptoms, depending on the location of the tumor. These signs may include:

• Swollen lymph nodes in the neck, armpit or groin;

• Discomfort or feeling of fullness in the abdomen;

• Fatigue;

• Shortness of breath; and

• Unexplained fever, night sweats, or weight loss.

ICD-9: 200.2; 200.5; 200.6; 200.7; 202.0; 202.7; 202.8

PROGRESSION

NHL can occur at any age, with the risk of increasing with age. Most people are diagnosed in their 60’s. The prognosis for Adult NHL is dependent on the type and characteristics of the malignant tumor, the growth and location of the tumor, and the spread (metastasis) at the time of diagnosis.

TREATMENT

Adult NHL is mainly treated with chemotherapy, with radiation therapy, or antibody or biological therapy added depending on response to treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical history and examination that describes diagnostic features of the impairment;

• Imaging tests;

• Biopsies;

• Pathology reports;

• Surgical procedures;

• Pertinent treatment records; and

• Up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.05 A

Listing level aggressive adult Non-Hodgkin Lymphoma requires that the cancer be recurrent after initial anti-neoplastic treatment. Listing level indolent adult non-Hodgkin lymphoma requires initiation of more than one antineoplastic treatment regimen within a consecutive 12-month period.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.927 Alveolar Soft Part Sarcoma

COMPASSIONATE ALLOWANCE INFORMATION
ALVEOLAR SOFT PART SARCOMA

ALTERNATE NAMES

ASP Sarcoma; ASPS

DESCRIPTION

Alveolar Soft Part Sarcoma (ASP) is a rare type of soft tissue sarcoma occurring primarily in children and adolescents. These tumors are usually located in the head and neck, arms or legs (usually the deep thigh area), chest, abdomen, genital organs, or anal area.

These tumors usually arise in the soft tissues containing many blood vessels, but can also grow inside the bones. The exact cause of ASP is unknown, but some scientific research suggests that genetic mutations in the ASPL and TFE3 genes are contributory to the cause of ASP.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing :

• X-ray;

• CT scan;

• MRI scan;

• Bone scan;

• Ultrasound exam;

• Bone marrow aspiration and biopsy;

• Lumbar puncture;

• Immunohistochemistry study; and

• Cytogenetic analysis.

Physical findings: Physical findings of ASP depend on the site of the tumor and degree of metastases. These signs may include:

• A painless swelling or lump;

• Pain or soreness caused by compressed nerves or muscles; and

• Limping or other difficulty using the legs and feet.

ICD-9: 171.9

PROGRESSION

ASP occurs mainly in children between the ages of infancy to approximately 19 years of age. The prognosis is poor if there are metastases to other sites. Persons with ASP tumors may relapse several years after a prolonged period of apparent remission.

TREATMENT

Treatment of ASP tumors depends on the specific type of tumor, its size, its location, and the amount that it has spread (metastasis). The standard treatment of these tumors is a complete resection of the primary tumor. If complete excision is not feasible, radiation therapy is administered. Adjuvant chemotherapy is used in some patients with varying response to treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Biopsy reports; and

  • Imaging reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

Listing level severity of soft tissue sarcomas in adults must be documented by metastases, or by recurrence or persistence following initial anti-neoplastic treatment.

113.03

Listing level severity in children must be documented by confirmed diagnosis or recurrence.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.929 Aplastic Anemia

COMPASSIONATE ALLOWANCE INFORMATION

APLASTIC ANEMIA

ALTERNATE NAMES

Acquired Aplastic Anemia; Anemia Aplastic; Bone Marrow Failure; Idiopathic Aplastic Anemia; Secondary Aplastic Anemia; Severe Aplastic Anemia

DESCRIPTION

Aplastic Anemia (AA) is a rare blood disorder that occurs when the body’s bone marrow does not make enough new cells to replenish blood cells. Although anemia usually refers to low red blood cell counts, typically in AA there are also low white blood cell and low platelet counts. In most cases, AA is considered to be idiopathic, meaning the cause is unknown. Less commonly, AA can be caused by exposure to certain drugs, viral infections (i.e. hepatitis, Epstein-Barr virus, cytomegalovirus, parvovirus B19, and HIV), autoimmune disorders (i.e. lupus and rheumatoid arthritis) radiation therapy, or toxins (i.e. pesticides, benzene or arsenic).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : Bone marrow aspirate and biopsy is required for diagnosis and to rule out other causes of pancytopenia such as cancer or infection; blood counts documenting anemia, thrombocytopenia, leukopenia and low reticulocytes counts.

Physical findings :

• Anemia with fatigue and pallor;

• Bruising;

• Petechiae (non-raised hemorrhage in the skin or in a membrane);

• Bleeding gums;

• Bleeding of internal organs;

• Frequent or severe infections;

• Nosebleeds;

• Rapid heart rate;

• Rash;

• Shortness of breath during physical activity; and

• Weakness.

ICD-9: 284.9

PROGRESSION

AA usually gets worse unless the cause is removed or the disease is treated. Mild and moderate forms of the disease often progress slower than the severe form.

TREATMENT

Supportive treatments for AA include blood transfusions, platelet transfusions, and medications such as antithymocyte globulin (ATG) or antilymphocyte globulin (ALG), cyclosporine, or low dose chemotherapy. If the bone marrow does not recover and start producing blood cell elements, then bone marrow transplant (BMT) is required. BMT has been successful in the treatment of young patients, with a long-term survival of approximately 80%. Older patients have a survival rate of 40 – 70% after a transplant. If left untreated, severe aplastic anemia can become life threatening.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features and physical findings;

  • Laboratory studies and bone marrow biopsy pathology reports; and

  • Documentation of bone marrow or stem cell transplantation.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

7.17

Listing level severity requires documentation of bone marrow or stem cell transplantation; reevaluate 1 year after transplantation.

107.17

Equals

7.17

107.17

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.931 Beta Thalassemia Major

COMPASSIONATE ALLOWANCE INFORMATION

BETA THALASSEMIA MAJOR

ALTERNATE NAMES

Beta Thalassemia Major Syndrome; Beta Thalassemia Major Disease; Thalassemia Major; Cooley Anemia; Cooley Anemia Disease; Cooley Anemia Syndrome; Erythroblastic Anemia of Childhood; Microcythemia Major; Mediterranean Anemia Major; Beta Zero Thalassemia

DESCRIPTION

Beta Thalassemia Major (BT major) is a hereditary blood disorder where the bone marrow is unable to produce the beta chain of hemoglobin, resulting in chronic anemia and lowered ability of the blood to transport oxygen to cells. BT major is the most severe type of thalassemia (the other types are BT intermedia and BT minor.) BT major requires regular lifelong blood transfusions, and the affected individuals are considered to be “transfusion-dependent”. Over time, the chronic blood transfusions lead to a buildup of iron in the body (iron overload), and require iron chelation therapy.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing :

• Complete blood count (CBC);

• Reticulocyte counts;

• Hemoglobin electrophoresis;

• Quantitative hemoglobin A2; and

• Quantitative hemoglobin F.

Physical findings :

• Poor growth/failure to thrive;

• Delayed puberty;

• Pallor;

• Jaundice (yellowish color of the skin or whites of the eyes);

• Enlarged spleen, liver or heart; and

• Skeletal abnormalities (especially the bones in the face).

ICD-9: 282.44

PROGRESSION

Signs and symptoms of BT major usually occur within the first 2 years. Children develop life-threatening anemia, have failure to thrive, and may develop jaundice. People with BT major are prone to complications such as infection, and osteoporosis.

TREATMENT

Life-long blood transfusions at least once every six weeks are required for BT major; iron chelation therapy once significant iron overload occurs; and folic acid supplements. Stem cell transplant is the only treatment that can cure BT. Without transplantation, death by age 20 is common.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes diagnostic features and physical findings;

  • Laboratory reports documenting hemoglobin levels and electrophoresis; iron studies to document iron overload or liver toxicity; and

  • Genetic tests such as HLA typing may be done to evaluate for potential bone marrow transplantation, but are not required for diagnosis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

7.05 D

Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent with listing level severity.

Reevaluate adult Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.

7.17

Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent with listing level severity.

Reevaluate adult Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.

107.05 D

Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent with listing level severity.

Reevaluate child Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.

107.17

Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent with listing level severity.

Reevaluate child Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.933 Bilateral Optic Atrophy - Infantile

COMPASSIONATE ALLOWANCE INFORMATION

BILATERAL OPTIC ATROPHY - INFANTILE

ALTERNATE NAMES

Infantile Bilateral Optic Atrophy; Bilateral Optic Neuropathy; Idiopathic Bilateral Optic Atrophy; Congenital Optic Atrophy; Pediatric Bilateral Optic Atrophy

DESCRIPTION

Bilateral Optic Atrophy (BOA) is a condition that affects the optic nerve, which carries impulses from the eye to the brain. Characteristics of BOA involve deficits in central vision, difficulties distinguishing contrast, loss of visual acuity, and changes in the color and the structure of the optic disc. BOA occurs in both eyes from time of birth and may cause rhythmic, involuntary eye movements (nystagmus). This disorder may be caused by a number of diseases and conditions, such as tumors of the visual pathways, hypoxia before or shortly after birth, birth trauma, hydrocephalus, heredity, and degenerative diseases. Many children with BOA may have other neurological problems such as seizures, developmental delays or motor problems.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing:

  • Neuroimaging;

  • Electroretinogram; or

  • VER testing.

Physical findings:

  • Diminished visual acuity;

  • Inability to fixate and follow;

  • Abnormal pupil reaction to light; and

  • Evidence of nystagmus.

ICD-9: 377.10

PROGRESSION

BOA symptoms may occur suddenly or process gradually depending on the cause. Visual acuity may range from nearly normal to blindness.

TREATMENT

There is no cure for BOA. Treatment is symptomatic and based on the primary cause of this disorder (i.e. tumors may be surgically removed).

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features and physical findings;

  • Evidence measuring best corrected visual acuity or the extent of visual fields;

  • If the child is unable to use the Snellen methodology or other comparable testing, documentation of fixation and visual following behavior; and

  • Reports of anatomical findings or results of neuroimaging, electroretinogram, or VER testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

102.02

Listing level severity must be documented.

102.03

Listing level severity must be documented.

102.04

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.939 Congenital Lymphedema

COMPASSIONATE ALLOWANCE INFORMATION

CONGENITAL LYMPHEDEMA

ALTERNATE NAMES

Congenital Hereditary Lymphedema; Primary Lymphedema; Congenital Primary Lymphedema; Milroy disease

DESCRIPTION

Lymphedema is swelling that is caused by the abnormal accumulation of lymph fluid in tissues, resulting from malfunctions in the lymphatic system or blockage of lymph vessels. Congenital Lymphedema is a rare type of primary lymphedema (non-acquired) occurring at birth. In most cases, lymphedema primarily affects the lower limbs (starting with the feet) but it can also affect the upper limbs. The exact cause of congenital lymphedema is unknown, but the disorder may be part of a congenital syndrome. Females are twice as likely as males to have congenital lymphedema.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing:

• Biopsy reports documenting lymphatic channel anaplasia;

• CT, MRI, or nuclear medicine scans; and

• Doppler ultrasonography is used to evaluate flow in the lymphatic and venous systems.

Physical findings: Physical findings of this condition may include:

• Lymphatic pathway dysplasia (abnormal development of the lymphatic vessels that transports lymphatic fluid;

• Aplasia (congenital absence of a limb, organ or other body part);

• Hypoplasia (incomplete development of an organ or part);

• Heavy, swollen lower or upper limbs that may be shorter than unaffected limbs, or may have digital anomalies; and

• Skin changes such as tightness, thickening, discoloration or hardening; there may be signs of infection.

ICD-9: 757.0

PROGRESSION

This disorder occurs at birth or soon after and is most often bilateral. In some cases, the lymphedema may spontaneously improve. Other syndromic types of lymphedema have later onset, most often during puberty.

TREATMENT

There is no cure for lymphedema. Treatment is symptomatic, and surgery is considered to be palliative. Infections are a major risk and require prompt initiation of antibiotics and wound care. Persons with lymphedema are treated with compression bandages and manual lymph drainage massage techniques to move the extra fluid to other parts of the body so that the body can excrete it.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Doppler ultrasound reports documenting abnormal flow in lymphatic and venous systems; and

  • Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

101.02 A or B

Listing level severity must be documented.

Equals

101.08

Listing level severity must be documented.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.943 Dravet Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

DRAVET SYNDROME

ALTERNATE NAMES

Severe Myoclonic Epilepsy Of/In Infancy; SMEI Syndrome; Epilepsy with Polymorphic Seizures; Polymorphic Epilepsy in Infancy; PMEI

DESCRIPTION

Dravet syndrome (DS) is a rare, genetic epileptic encephalopathy (dysfunction of the brain) with onset during the first year of life. Mutations of the SCN1A gene cause up to 80% of diagnosed cases of DS. Frequently referred to as a sodium channelopathy, this intractable epilepsy is characterized by unilateral (one-sided) clonic or tonic clonic (grand mal) seizures that are prolonged (> 5 minutes) or progress to status epilepticus (>30 minutes) and require emergency management. Myoclonic seizures, often called myoclonic jerks, are common. Over time seizures occur more frequently without obvious triggers, and resistant to treatment.

Between one and four years of age, children develop other seizure types including atypical absence, eyelid myoclonia and non-convulsive seizures. All seizure types may be prolonged or lead to status epilepticus--a state of continuous seizure requiring emergency medical care. Children with DS typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Genetic testing for mutations within the SCN1A gene; EEGs.

Physical findings:

  • Ataxia;

  • Dysarthria;

  • Intention tremor; and

  • Abnormal eye movement disorder.

ICD-9: 345.1

PROGRESSION

Infants with Dravet syndrome appear normal at birth with most children showing signs and symptoms of this disorder during the first year of life. As children with Dravet syndrome get older, the degree of intellectual impairment appears to correlate with the frequency of seizures. The decline in cognitive function tends to stabilize after age 4. Children surviving into adolescence and adulthood are dependent on caregivers.

TREATMENT

Seizures in Dravet syndrome are difficult to manage, but can be reduced by anticonvulsant drugs. Some medications may aggravate seizures necessitating close monitoring of medication use by the claimant’s medical source(s). Treatment with a ketogenic diet high in fats and low in carbohydrates has been of benefit in some cases.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment, and physical and cognitive findings;

  • Imaging studies such as CT, MRI, or PET scans documenting structural changes in the brain;

  • EEG reports measuring abnormalities in electrical activity in the brain; and

  • Laboratory testing to rule out other causes (such as low or high blood sugar, low sodium, low magnesium or thyroid disorder) for seizures and for mutations in the SCN1A gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.02

Listing level severity must be documented.

111.02

Listing level severity must be documented.

Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.945 Endometrial Stromal Sarcoma

COMPASSIONATE ALLOWANCE INFORMATION

ENDOMETRIAL STROMAL SARCOMA

ALTERNATE NAMES

Endometrial Stromal Sarcoma Grade III/IV; High Grade Endometrial Stromal Sarcoma; ESS; Undifferentiated Uterine Sarcoma; UUS

DESCRIPTION

Endometrial Stromal Sarcoma (ESS) is the rarest type of uterine cancer that accounts for less than 1% of cancers of the female reproductive organs. These tumors tend to occur more often in premenopausal women between 40-50 years of age. This is younger than the average for uterine cancer in general (early 60s). African American women are two times more likely to get these rare uterine cancers.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing:

  • Examination of endometrial cells collected during a dilation and curettage (D&C) procedure;

  • Endometrial biopsy;

  • Hysteroscopy; and

  • MRI or CT scans of the pelvis.

Physical findings:

• Vaginal bleeding and/or spotting in postmenopausal women;

• Abnormal uterine bleeding;

• Anemia caused by chronic loss of blood;

• Enlarged uterus;

• Lower abdominal pain or pelvic cramping; or

• Vaginal discharge.

ICD-9: 182.0

PROGRESSION

The prognosis for ESS is poor as it is a high grade malignancy that grows and metastasizes quickly. By the time this sarcoma is diagnosed, it has often spread outside of the uterus. Once treated, it also has a high propensity for recurrence.

TREATMENT

Most ESS are treated with complete surgical resection including total abdominal hysterectomy (removal of the uterus) and bilateral salpingo-oophrorectomy (removal of the fallopian tube and ovary), plus chemotherapy and radiation therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology report of a biopsy specimen of the stroma of the endometrium; and

  • Surgery reports and/or imaging that document spread of cancer.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04 A or B

Listing level severity must be documented.

13.23 A

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.947 Erdheim Chester Disease

COMPASSIONATE ALLOWANCE INFORMATION

ERDHEIM CHESTER DISEASE

ALTERNATE NAMES

Erdheim Chester Syndrome; Lipoid Granulomatosis; Non-Langerhans Cell Histiocytosis; Polyostotic Sclerosing Histiocytosis

DESCRIPTION

Erdheim Chester Disease (ECD) is a rare type of histiocytosis disease that involves an excessive production and accumulation of a certain type of white blood cells (histiocytes) in many different organs of the body. These cells normally are responsible for responding to infection and injury. In ECD, these cells infiltrate the bones (long bones), eyes, pituitary gland and various organ systems (pulmonary, cardiovascular, renal, skin, and central nervous system) causing these tissues and organs to become thickened, dense, and fibrotic. Without treatment, organ failure can occur. Many ECD patients carry gene mutations linked to blood and other cancers. National Institutes of Health researchers have concluded ECD is a type of cancer and should be treated by oncologists.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing:

• X-rays, CT scans, MRIs, and bone scans indicating abnormal thickening, masses, or lesions;

• Bronchoscopy with biopsy;

• Biopsy of tissue; and

• Pulmonary function tests to provide information on clinical severity

Physical findings : Symptoms and signs depend on specific organ involvement. Symptoms of ECD may include:

• Bone pain in the long bones of the arms and legs;

• Weight loss;

• Night sweats;

• Muscle and joint aches, weakness and fatigue;

• Difficulty speaking;

• Kidney problems;

• Soft tissue masses or lesions on the body;

• Bulging eyes due to a mass behind the eye;

• Vision problems;

• Shortness of breath;

• Interstitial lung disease;

• Increased susceptibility to infections; and

• Fibrous growth in or around the heart.

ICD-9: 277.89

PROGRESSION

ECD occurs in adults, most often in middle age. Age of onset is usually between 40 and 60 years of age. The prognosis for ECD is poor. The mean survival time is less than three years with visceral (organ) involvement. Death typically results from respiratory, heart, and kidney damage.

TREATMENT

Treatment for ECD is symptom-specific and temporary. Treatment with surgical debulking, corticosteroid therapy, interferon, chemotherapy used for hairy cell leukemia, and radiation therapy has been utilized with varying degrees of success.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes the diagnostic features of the impairment;

  • Biopsy of affected organ system; and

  • Functional assessment of the organ system involved (for example, pulmonary function tests).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.06 A

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.951 Fryns Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

FRYNS SYNDROME

ALTERNATE NAMES

FRNS; Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies; Congenital Diaphragmatic Hernia; CDH

DESCRIPTION

Fryns Syndrome (FRNS) is a rare congenital disorder that affects the development of many parts of the body. Children with FRNS are born with a diaphragmatic hernia (hole in the diaphragm) that results in pulmonary hypoplasia (underdeveloped lungs), causing life-threatening breathing difficulties in affected infants. Other characteristics may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. The exact cause of this condition is unknown, but is thought to be caused by autosomal recessive genetic mutations.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis of FRNS is based on clinical findings—no specific genetic mutations have been identified. Imaging such as chest and abdominal radiographs, cranial ultrasound examination, echocardiogram, and renal ultrasound may be used to determine the extent of the disease. Just having a congenital diaphragmatic hernia alone does not make the diagnosis.

Physical findings:

• Congenital diaphragmatic hernia requiring emergency surgery at birth;

• Pulmonary hypoplasia;

• Characteristic facial features (ocular hypertelorism, coarse facies, low-set ears, micrognathia);

• Cloudy corneas;

• Abnormalities of the fingers and toes (distal digital hypoplasia);

• Kidney dysplasia;

• Severe developmental delay and intellectual disability; and

• Abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia.

ICD-9: 756.6

PROGRESSION

FRNS is a congenital disorder that is characterized by multiple abnormalities that may affect cardiac, lung, and renal functioning. Survival beyond the neonatal period has been rare. In the few individuals that survive, severe developmental delays and intellectual impairment are common.

TREATMENT

The treatment and management of FRNS is symptomatic such as corrective surgery for hernia repair. Standard supportive treatment is needed for children with cardiac, renal, and pulmonary involvement. School age children require individualized and flexible instructional curricula.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • Laboratory findings; and

  • Developmental assessment or psychological testing to address allegations of mental impairments may be warranted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

Listing level severity must be documented.

110.08 B

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.953 Fulminant Giant Cell Myocarditis

COMPASSIONATE ALLOWANCE INFORMATION

FULMINANT GIANT CELL MYOCARDITIS

ALTERNATE NAMES

Fulminant GCM; Fulminant Myocarditis; Fulminant Non-ischemic Dilated Cardiomyopathy

DESCRIPTION

Giant Cell Myocarditis (GCM) is a rare, autoimmune, cardiovascular disorder that causes inflammation of the heart muscle, ventricular tachycardia (a rapid heartbeat that starts in the ventricles) and often progresses to heart failure. Fulminant Giant Cell Myocarditis is a form of GCM that occurs suddenly and without warning. The cause of this disease is unknown.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing:

• Endomyocardial biopsy;

• Clinical laboratory tests;

• Coronary angiography;

• Cardiac MRI; and

• Biomarkers of cardiac injury.

Physical findings: People with fulminant GCM may have a medical history significant for autoimmune diseases such as:

• Collagen vascular disease;

• Inflammatory bowel disease;

• Diabetes mellitus;

• Sarcoidosis;

• Thyrotoxicosis;

• Wegener granulomatosis; or

• Loeffler syndrome.

Symptoms of fulminant GCM include fever and other signs of infection including:

• Headache;

• Muscle aches;

• Sore throat;

• Diarrhea;

• Rashes;

• Joint pain; or

• Swelling.

ICD-9: 422.91

PROGRESSION

Fulminant GCM has a poor prognosis and frequently requires heart transplantation or immunosuppression for long term survival. This disease most often occurs in people over 50 years of age. Mortality is associated with heart failure and ventricular arrhythmia.

TREATMENT

Immunosuppressive drug therapy is initially used to treat fulminant GCM. Damage caused by heart muscle destruction and eventual heart failure eventually requires heart transplantation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Cardiac MRI report; and

  • Cardiac biopsy report.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

4.02

Listing level severity must be documented.

4.05

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.955 Hepatopulmonary Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

HEPATOPULMONARY SYNDROME

ALTERNATE NAMES

Hepatopulmonary Syndrome Type I/II; Hepato Pulmonary Syndrome

DESCRIPTION

Hepatopulmonary syndrome (HPS) is a severe condition involving shortness of breath and hypoxemia in people with chronic liver disease that has advanced to the point that it affects their lungs. People with this disorder have low arterial blood oxygen levels (hypoxemia) caused by expansion (dilation) of the blood vessels in the lungs. The expanded blood vessels make it difficult for the lungs to deliver an adequate supply of oxygen to the body. HPS affects both liver and pulmonary (lung) functioning.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : The following tests are helpful in establishing the diagnosis of HPS:

  • Contrast enhanced echocardiogram with evidence of intrapulmonary vascular dilation provides a definitive diagnosis of HPS;

  • Arterial blood gas analysis;

  • Chest x-rays;

  • Computed tomography (CT) scans; and

  • Transthoracic echocardiography (TTE) .

Physical findings:

The signs of impaired liver functioning may include:

  • Gastrointestinal bleeding;

  • Esophageal varices;

  • Ascites;

  • Palmar erythema;

  • Spider nevi; and

  • Enlarged spleen (splenomegaly).

The signs of pulmonary involvement may include:

  • Digital clubbing (the appearance of changes in the areas under and around the toenails and fingernails);

  • Cyanosis (a condition in which the lips, fingers, and toes appear blue);

  • Dyspnea (shortness of breath);

  • Platypnea (shortness of breath that is relieved when lying down and worsens when standing or sitting); and

  • Orthodeoxia (fall in arterial blood oxygen while in the upright position).

ICD-9: 573.5, 573.8

PROGRESSION

HPS worsens the prognosis of individuals with cirrhosis and other liver diseases. Individuals who are not candidates for liver transplantation have a median survival of 2 years. Mortality is usually associated with complications of hepatic disease.

TREATMENT

Liver transplantation is the only definitive treatment for HPS. Alternative treatments are supportive and symptomatic. Supplemental oxygen or somatostatin inhibits vasodilation (dilation of the blood vessels).

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes the diagnostic features of the impairment;

  • Pulmonary function tests including diffusing capacity (DLCO), spirometry, and arterial blood gas studies (ABGs); and

  • Documentation of intrapulmonary arteriovenous shunting by contrast-enhanced echocardiography or macroaggregated albumin lung perfusion scan.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

5.05E

Listing level severity must be documented.

105.05E

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.957 Hepatorenal Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

HEPATORENAL SYNDROME

ALTERNATE NAMES

Hepatorenal Syndrome Type I/II; Hepato Renal Syndrome

DESCRIPTION

Hepatorenal Syndrome (HRS) is a condition in which there is progressive kidney failure in a person with cirrhosis of the liver, along with portal hypertension and ascites. It is a serious and often life-threatening complication of cirrhosis. HRS occurs when there is a decrease in kidney function in a person with a severe liver disorder. It occurs when there is a decrease in the amount of urine that is removed from the body due to severe liver dysfunction resulting in an increase of nitrogen-containing waste products in the bloodstream (azotemia).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: HRS is diagnosed when other causes of kidney failure are clinically ruled out.

Laboratory studies may include:

• BUN and serum creatinine levels;

• Urinalysis showing increased urine specific gravity; and

• Tests for low serum sodium and very low urine sodium concentration.

Liver tests will show increased prothrombin time, low serum albumin, and sometimes increased serum ammonia levels.

Imaging studies may include abdominal ultrasound. Signs of hepatic encephalopathy may also be present.

Physical findings: Symptoms of HRS may include:

• Orthostatic hypotension (a fall in blood pressure occurring when a person sits up or stands up suddenly);

• Edema;

• Change in mental status;

• Muscle spasms/jerks;

• Dark-colored urine;

• Decreased urine production (oliguria);

• Nausea/vomiting;

• Unexplained weight gain; and

• Yellow skin (jaundice).

The clinical examination will also show signs of chronic liver failure.

ICD-9: 572.4

PROGRESSION

A diagnosis of HRS occurs in up to 1 in 10 people who are in the hospital due to liver failure and is diagnosed when other causes of kidney failure are ruled out. Complications of HRS may include bleeding, damage to and failure of multi-organ systems, end stage kidney disease, fluid overload with congestive heart failure or pulmonary edema, hepatic coma and secondary infections. The prognosis for people with HRS is poor. Mortality is usually associated with secondary infection or severe bleeding (hemorrhage).

TREATMENT

Liver transplantation is the only definitive treatment for HRS. Alternative treatments are supportive and symptomatic. Dialysis, nonsurgical shunt (TIPS) and surgical shunts (Levine) relieve the symptoms of kidney failure.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes the diagnostic features of the impairment;

  • Medical records showing functional renal failure in the absence of underlying kidney pathology; and

  • Laboratory studies documenting serum creatinine elevation of at least 2 mg/dL; or oliguria with 24-hour urine output < 500 mL; or sodium retention with urine sodium < 10 mEq per liter.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

5.05 D

The criteria in listing 5.05 D are met with documentation of chronic liver disease and any one of the three laboratory findings on one evaluation.

105.05 D

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.959 Jervell and Lange-Nielsen Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

JERVELL AND LANGE-NIELSEN SYNDROME

ALTERNATE NAMES

Jervell Lange Syndrome; Jervell Nielsen Disease; Nielsen Syndrome; Cardio Auditory Syncope Syndrome; Cardioauditory Syndrome of Jervell and Lange-Nielsen; Surdo Cardiac Syndrome; Long QT Syndrome; LQTS

DESCRIPTION

Jervell and Lange-Nielsen Syndrome (JLNS) is a condition that occurs when congenital sensorineural hearing loss and long QT syndrome occur together. Long QT syndrome is a heart condition where the heart muscles take longer than usual to recharge between beats, which may lead to arrhythmias. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death. Physical activity, excitement, or stress may trigger the onset of symptoms in children. Mutations in the KCNE1 and KCNQ1 genes cause JLNS.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis of JLNS is established by:

• Audiologic evaluation for extent of hearing loss (congenital sensorineural deafness);

• Cardiac examination including electrocardiogram (ECG) calculation of long QTc interval (greater than 500 msecs);milliseconds (msec); and • Genetic testing for the presence of mutations in either KCNQ1 or KCNE1 genes.

Physical findings: JLNS is characterized by:

• Congenital profound bilateral sensorineural hearing loss; and

• Long QTc interval greater than 500 msec.

ICD-9: 426.82

PROGRESSION

This disorder is usually detected in early childhood. Fifty percent of individuals with JLNS have cardiac events before age three years. Sudden cardiac death appears to be low in individuals younger than age five years. Early medical therapy is advisable for high-risk individuals and implantable cardioverter defibrillator (ICD) placement should be considered after age five years. More than half of untreated children with JLNS die prior to age 15 years.

TREATMENT

An interdisciplinary team of health care providers usually treat issues associated with JLNS. This team may consist of an otologist or otolaryngologist, cardiologist, audiologist, or speech language pathologist. Individuals with JLNS are prescribed cochlear implants to treat hearing loss; beta adrenergic blockers medications for long QT interval; and ICD placement for individuals with a history of cardiac arrest and/or failure.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Complete otologic examination and audiometric testing within 2 months of the otologic examination; and

  • Clinical description of the arrhythmias and response to medication, implanted pacemaker, or implanted cardiac defibrillator; and response to episodes of syncope or near syncope.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

2.10 A or B

Listing level severity must be documented.

2.11 A or B

Listing level severity must be documented.

4.05

Listing level severity must be documented.

102.10

Listing level severity must be documented.

102.11

Listing level severity must be documented.

104.05

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.961 Leiomyosarcoma

COMPASSIONATE ALLOWANCE INFORMATION

LEIOMYOSARCOMA

ALTERNATE NAMES

Leiomyosarcoma of the Uterus; Leiomyosarcoma of Vascular Origin; Leiomyosarcoma of the Bone; Leiomyosarcoma of the Retroperitoneum; Leiomyosarcoma Stage IV; Leiomyosarcoma Stage III; High Grade Leiomyosarcoma

DESCRIPTION

Leiomyosarcoma (LMS) is an aggressive soft tissue sarcoma derived from smooth muscle cells of uterine, gastrointestinal, or soft tissue origin. LMS are most often found in the uterus or abdomen, but can spread to other areas through the bloodstream and can affect the lungs, liver, internal organs, blood vessels or other soft tissue in the body.

There are 5 types of LMS:

  • Soft tissue LMS;

  • Cutaneous LMS;

  • Vascular LMS;

  • LMS of the Immunocompromised; and

  • Bone LMS.

LMS is one of the more common types of sarcoma to occur in adults. The exact cause of LMS is unknown. Very rarely, soft tissue sarcomas may occur in an area that has previously been treated with radiotherapy for another type of cancer. Exposure to some types of chemicals may increase the risk of developing some sarcomas. People with early LMS often do not have any symptoms, until the cancer has developed to advanced stages. When the retroperitoneum (area in back of the abdominal cavity) is involved, symptoms may be hidden for a longer period of time because of the large volume of the abdomen, and therefore at presentation the tumor is generally larger than the typical extremity tumor.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Diagnostic testing for LMS includes:

• Physical examination;

• Imaging tests such as X-ray, ultrasound, CT scan, MRI scan;

• Endoscopy for tumors with gastrointestinal involvement; and

• Laboratory analysis. A biopsy confirms the diagnosis.

A biopsy confirms the diagnosis.

Physical findings : Physical findings of LMS vary, depending on the location and size of the tumor. Symptoms may include:

• A lump or swelling;

• Abdominal discomfort or bloating;

• Swelling or pain in any area of the body; or

• Unusual bleeding.

ICD-9: 171.5; 171.6; 171.8

PROGRESSION

LMS generally occur in adults, but may affect children. Prognosis depends on the type of LMS, although it is generally poor. Deep soft tissue LMS are usually detected before they reach the large size of many retroperitoneal tumors. About half of these patients die of metastatic disease. True intradermal (Cutaneous) LMS is curative with surgery and does not metastasize. LMS of vascular origin has a poor prognosis--metastatic disease to the liver and lungs occurs in 54% of cases. LMS in the Immunocompromised Host behaves aggressively. In Bone LMS, recurrences and metastases occurs in 25% of cases.

TREATMENT

The usual treatment for a LMS is surgery to remove the tumor. This may be followed by radiotherapy to reduce the chance of the cancer coming back. Chemotherapy is also used for some LMS to reduce the chances of the recurrence or to treat LMS that has spread.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment and laboratory studies are needed to confirm the diagnosis, including biopsy and imaging.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

13.23 A

Leiomyosarcoma of the uterine corpus which invades adjoining organs or is persistent, recurrent or metastatic meets the criteria in listing 13.23 A.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.963 Malignant Gastrointestinal Stromal Tumor

COMPASSIONATE ALLOWANCE INFORMATION

MALIGNANT GASTROINTESTINAL STROMAL TUMOR

ALTERNATE NAMES

Gastrointestinal Stromal Neoplasm; Gastrointestinal Stromal Sarcoma

DESCRIPTION

Malignant Gastrointestinal Stromal Tumor (GIST) is a rare type of soft tissue tumor that usually begins in cells in the wall of the stomach, intestines, or rectum. GIST tumors are caused by mutations in the PDGFRA gene. Clinical features of the GIST depend on the size and site of the tumor and may include acute or chronic bleeding, intestinal obstruction, perforation, alteration of bowel habits, difficult to distinguish abdominal discomfort, dysphagia (difficulty swallowing) and externally palpable abdominal mass. The most common symptoms associated with GISTs are vague, nonspecific abdominal pain or discomfort. GISTs may also produce symptoms secondary to obstruction or hemorrhage (GI bleeding, malaise, fatigue, and dyspnea). The obstructive symptoms can be site-specific (e.g., dysphagia with an esophageal GIST, constipation with a colorectal GIST, obstructive jaundice with a duodenal tumor, etc.)

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing:

• Imaging tests such as X-ray, MRI, CT or PET scans;

• Barium X-rays;

• Barium swallow tests (upper GI series);

• Enteroclysis;

• Barium enema (lower GI series);

• Capsule endoscopy;

• Double Balloon Enteroscopy;

• Endoscopic Ultrasound;

• Surgical biopsy;

• Fine Needle Biopsy; or

• Blood tests.

Physical findings:

• GI bleeding;

• GI obstruction, appendicitis-like pain;

• Constipation;

• Fatigue;

• Difficulty swallowing;

• Anemia due to GI bleed; and

• Feeling of stomach fullness (satiety).

ICD–9: 238.1

PROGRESSION

GIST tumors range from slow growing indolent tumors to aggressive malignant cancers with the propensity to invade adjacent organs, metastasize to the liver, and recur locally within the abdomen. Most GIST tumors are diagnosed at an advanced stage and have a poor prognosis. These tumors are most commonly diagnosed between ages 55 – 65 years of age, and rarely are discovered in younger adults.

TREATMENT

Surgery with complete resection of GIST is the preferred method of treatment for localized tumors. However, surgery has limited efficacy in the treatment of recurrent and metastatic gastrointestinal stromal tumors, as compared with sarcomas in the extremities. The development of drug therapy (i.e. imatinib) targeted at specific characteristics of cancer cells in GIST has improved the treatment of this tumor compared with surgical removal alone.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology report documenting type and stage of tumor;

  • Operative reports;

  • MRI or CT scans; and

  • Abdominal endoscopy, enteroscopy, or ultrasound.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.16

When occurring in the stomach, which is the organ where most GISTs originate, any metastases to or beyond the regional lymph nodes will meet the criteria in listing 13.16 B 2.

13.17

Since many of these tumors are benign, listing level cancerous tumors must be documented as inoperable, unresectable, extending to surrounding structures (for example, the omentum), recurrent, or with metastases.

13.18

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.965 Malignant Germ Cell Tumor

COMPASSIONATE ALLOWANCE INFORMATION

MALIGNANT GERM CELL TUMOR

ALTERNATE NAMES

Pediatric Malignant Germ Cell Tumor; Adult Malignant Germ Cell Tumor

DESCRIPTION

Malignant Germ Cell Tumors (GCT) are malignant tumors that are formed by immature cells that begin in the reproductive cells of the testes or ovaries. These germ cells travel into the pelvis as ovarian cells or into the scrotal sac as testicular cells. These cells metastasize to other parts of the body and most commonly spread to the lungs, liver, lymph nodes, and central nervous system.

Adult germ cell tumors are usually in the testes or ovaries. There are germ cell tumors that grow outside of the gonads (very rare). These cells may grow in any location but generally settle in the brain (brain germ cell tumors), chest (chest germ cell tumors), or abdomen (abdominal germ cell tumors). Germ cell tumors in children usually form in the gonads, but can migrate to other areas. The exact cause of malignant GCT is unknown.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Biopsy and imaging studies

Physical findings: Physical examination of malignant GCT depend on the size and location of the tumor. Symptoms of malignant GCTs depend on the size and location of the tumor.

Mid chest GCT may cause:

• Chest pain;

• Breathing problems;

• Cough;

• Weight loss;

• Nausea; and

• Fevers.

Lower back GCTs may present as a mass in the lower abdomen or buttocks.

Back of the abdomen GCTs may cause back pain or kidney problems and can sometimes be felt during a physical examination.

GCTs that occur in the brain interfere with the flow of fluid around the brain and spinal cord with symptoms of:

• Headaches;

• Nausea;

• Vomiting;

• Memory loss;

• Fatigue;

• Gait disturbances;

• Uncontrolled eye movements; and

• Double vision.

ICD-9: 183.00; 186.00

PROGRESSION

The prognosis for malignant germ cell tumors with distant or recurrent metastasis is poor. Congenital abnormalities affecting the central nervous system including spine, genitals, and urinary tract increase the risk for developing pediatric germ cell tumor malignancy, although these tumors are still extremely rare in children. Adult GCT generally occurs between 30- 40 years of age.

TREATMENT

Treatment for malignant GCT depends on the type of tumor, the stage at diagnosis, and the age of the affected person. The primary treatment of most GCTs involves surgical removal of the tumor. Tumors with distant metastasis or recurrent following debulking surgery are treated with chemotherapy or radiation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology report of biopsy specimen; and

  • Results of imaging.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.23 E 2

Listing level severity must be documented.

13.25

Listing level severity must be documented.

113.03

Listing level severity must be documented.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.969 Menkes Disease - Classic or Infantile Onset Form

COMPASSIONATE ALLOWANCE INFORMATION

MENKES DISEASE – CLASSIC or INFANTILE ONSET FORM

ALTERNATE NAMES

Classical Menkes Disease; Menkes Syndrome ; X-linked Copper Deficiency; Steely Hair Disease; Congenital Hypocupremia

DESCRIPTION

Menkes Disease (MNK) is a rare inherited neurodegenerative disorder that is caused by mutations in the ATP7A gene, resulting in abnormal uptake and metabolism of copper in cells of the body. Low copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function. Copper also builds up in the small intestine and kidneys. MNK is characterized by loss of developmental milestones, hypotonia (floppy muscle tone), seizures, feeding difficulties, failure to thrive, subnormal body temperature, and strikingly peculiar hair, which is often colorless or steel colored, and breaks easily. Menkes Disease-Classic form is the most severe type of this disorder and has an infantile onset (usually beginning at age 2-3 months).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing :

• Low copper and ceruloplasmin levels in the blood;

• Skin biopsy and fibroblast culture documenting abnormal copper metabolism; and

• Microscopic examination of the hair showing characteristic menkes abnormalities; molecular genetic testing showing ATP7A mutations.

Physical findings:

• Characteristic brittle, colorless hair that breaks easily;

• Poor growth/failure to thrive;

• Hypotonia (floppy muscle tone);

• Skeletal deformities and weak bones (osteoporosis); and

• Global developmental delays.

ICD-9: 759.89

PROGRESSION

Children with Classic or infantile onset MNK appear normal at birth, and then start showing symptoms around 2 -3 months of age. The prognosis for infantile onset MNK is poor, with most children dying by age 3.

TREATMENT

Treatment of Menkes disease is symptomatic and supportive. Early treatment with copper may improve the prognosis in some affected individuals.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Laboratory findings;

  • CT and MRI showing white matter demyelination, lesions, atrophy, and evidence of rupture or blockage of the arteries; and

  • Developmental assessment or psychological testing to address allegations of mental impairments may be warranted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

Listing level neuro-cognitive findings must be documented; diagnosis of MNK or genetic laboratory testing results alone does not meet listing severity.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.971 NFU-1 Mitochondrial Disease

COMPASSIONATE ALLOWANCE INFORMATION

NFU-1 MITOCHONDRIAL DISEASE

ALTERNATE NAMES

Multiple Mitochondrial Dysfunction Syndrome 1; Multiple Mitochondrial Dysfunction Syndrome Type 1; MMDS 1; NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)

DESCRIPTION

NFU-1 Mitochondrial Disease (NFU-1) is an inherited disease caused by a mutations in the gene NFU1, resulting in multiple mitochondrial dysfunctions syndrome type 1 (MMDS1), a severe disorder of systemic energy metabolism.

Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing:

• Blood or urine testing for lactic acidosis;

• Hyperglycinemia carnitine analysis and amino acid analysis;

• Cerebral imaging; and

• Muscle biopsy.

Physical findings:

• General weakness;

• Respiratory failure;

• Lactic acidosis;

• Hyperglycinemia (elevated glycine levels);

• Hypotonia (floppy muscle tone);

• Irritability;

• Failure to thrive;

• Pulmonary hypertension;

• Developmental delay; or

• Neurological regression.

ICD-9: 277.87

PROGRESSION

Multiple mitochondrial dysfunction syndrome type 1 is a severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurological development, and early death, usually before the age of 2 years.

TREATMENT

There is no cure for this disorder. Treatment is supportive and dependent on the symptomology.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • Laboratory testing showing results of genetic chromosome testing or enzyme analysis are needed to confirm the diagnosis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.975 Peritoneal Mucinous Carcinomatosis

COMPASSIONATE ALLOWANCE INFORMATION

PERITONEAL MUCINOUS CARCINOMATOSIS

ALTERNATE NAMES

Primary Peritoneal Surface Malignancy; Invasive Peritoneal Mucinous Carcinomatosis

DESCRIPTION

Peritoneal Mucinous Carcinomatosis is a rare type of cancer that affects the lining of the abdominal cavity called the peritoneum. It occurs when cancer cells from other parts of the body, such as the appendix, colon, gall bladder, liver, rectum, or pancreas, metastasize and implant into the lining of the peritoneum. It is a common feature of abdominal cancers that are in the terminal stage.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: CT scan showing thickening of the peritoneum and ascites.

Physical findings: Clinical features of this disease include:

• Ascites;

• Abdominal swelling;

• Constipation;

• Gastrointestinal disorders;

• Nausea;

• Vomiting;

• Anorexia; and

• Unexplained weight loss.

ICD-9: 197.6

PROGRESSION

The prognosis for people with this disease is poor because spread of multiple cancerous nodules from other organs to the peritoneum occurs in the late stages of the disease.

TREATMENT

Peritoneal mucinous carcinomatosis is an advanced form of cancer that is treated aggressively to prevent the cancer from spreading further. Treatment typically includes surgical debulking followed by chemotherapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging such as X-ray, CT or MRI scan reports of the peritoneum;

  • Biopsy report of the peritoneum; and

  • Tumor marker tests of blood indicating the presence of peritoneal cancer.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.16 B

Any affected primary abdominal cancer listing requiring metastases beyond the regional lymph nodes meets the criteria in listing 13.16 B. Listing level severity must be documented.

13.17

Any affected primary abdominal cancer listing requiring metastases beyond the regional lymph nodes meets the criteria in listing 13.17. Listing level severity must be documented.

13.18

Any affected primary abdominal cancer listing requiring metastases beyond the regional lymph nodes meets the criteria in listing 13.18. Listing level severity must be documented.

13.27

Any affected primary abdominal cancer listing requiring metastases beyond the regional lymph nodes meets the criteria in listing 13.27. Listing level severity must be documented.

Equals

13.15 B

 

Any affected listing for sites other than primary abdominal cancers involved by primary peritoneal carcinoma, including 13.15 B for men.

13.23 E 1

Any affected listing for sites other than primary abdominal cancers involved by primary peritoneal carcinoma, including 13.23 E 1 for women.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.979 Retinopathy of Prematurity - Stage V

COMPASSIONATE ALLOWANCE INFORMATION

RETINOPATHY OF PREMATURITY - STAGE V , BILATERAL

ALTERNATE NAMES

ROP Stage V; Retinopathy of Prematurity Type V; Retrolental Fibroplasia

DESCRIPTION

Retinopathy of Prematurity (ROP) is abnormal blood vessel development in the retina of very low birth weight premature infants. ROP occurs when abnormal blood vessels grow and spread throughout the retina, and the tissue that lines the back of the eye. These abnormal blood vessels are fragile and can leak blood, scarring the retina and pulling it out of position. There are five stages of ROP, with Stage V being the most severe due to complete retinal detachment causing visual impairment and blindness.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Complete ophthalmologic eye examination, including the diagnostic retinal staging of ROP with total retinal detachment.

Physical findings: Symptoms of ROP include:

• Scarring and/or dragging of the retina;

• Retinal detachment;

• Bleeding inside the eye (vitreous hemorrhage); and

• Blindness.

ICD-9: 362.27

PROGRESSION

Infants with Stage V ROP have total retinal detachment with very poor visual prognosis.

TREATMENT

Surgical treatment options for advanced ROP include laser treatments, cryotherapy, “scleral buckle” (which requires later procedures to remove the inserted silicon band), and vitrectomy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features and physical findings; and

  • Pediatric ophthalmological examination indicating total retinal detachment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

102.02 A or B

Findings must be bilateral.

102.03 A or B or C

Findings must be bilateral.

102.04 A or B

Findings must be bilateral.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.983 Severe Combined Immunodeficiency -- Childhood

COMPASSIONATE ALLOWANCE INFORMATION

SEVERE COMBINED IMMUNODEFICIENCY - CHILDHOOD

ALTERNATE NAMES

Pediatric Severe Combined Immunodeficiency; X-Linked SCID; Adenosine Deaminase Deficiency; ADA-SCID; Classical X-linked SCID; Bubble Boy Disease

DESCRIPTION

Severe Combined Immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections, chronic diarrhea, dermatitis, and failure to thrive (FTT). SCID is an inherited immune system disorder characterized by defects in T-cells, B-cells, and sometimes natural killer (NK) cells. Although there are multiple genetic mutations that may result in various immune deficiencies, the childhood form of SCID is by far the most severe.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing :

• Lymphocyte function tests;

• B-cell, T cell, and NK cell levels;

• Immunoglobin levels (IgG, IgM, IgA, IgE); and

• Genetic testing to identify the specific mutation(s) resulting in the immunodeficiency.

Physical findings : Infants and children with SCID have:

• Recurrent, severe infections (respiratory, meningitis, sepsis);

• Rashes that look like eczema;

• Chronic diarrhea;

• Oral thrush; and

• Failure to thrive (FTT).

ICD-9: 279.2

PROGRESSION

SCID usually presents within the first few months of life with failure to thrive, recurrent and hard to treat severe infections (pneumonia, gastrointestinal infections, sepsis), recurrent or persistent thrush, chronic diarrhea, and absent lymph nodes. Without immune reconstitution treatment such as bone marrow transplantation, children with SCID generally die before age 3.

TREATMENT

Children with SCID may be treated with antimicrobial prophylaxis, immunoglobulin replacement, and gene therapy. Transplantation of stem cell/bone marrow is the most effective treatment. Standard care for children with SCID includes isolation to avoid infection and meticulous skin and mucosal hygienic care while immune reconstitution.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment and laboratory findings (see above) are needed to confirm the diagnosis; and

  • Documentation of bone marrow/stem cell transplantation.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

114.07 A or B

If received transplant, follow guidance of 114.07 B.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.985 Sinonasal Cancer

COMPASSIONATE ALLOWANCE INFORMATION

SINONASAL CANCER

ALTERNATE NAMES

Sinonasal Malignancy; Sinonasal Undifferentiated Carcinoma; SNUC; Highly Aggressive Undifferentiated Carcinoma of the Nasal Cavity and Paranasal Sinuses

DESCRIPTION

Sinonasal Cancer is a rare aggressive cancer of the nasal cavity or the paranasal sinuses that mostly occurs in older individuals (over 55 years). This cancer is often confused with other poorly differentiated carcinomas that begin in the sinonasal tract.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: Immunohistochemistry of biopsy; MRI or CT scans; PET scan; electron microscopy; and molecular biologic studies are used to diagnosis SNUC.

Physical findings: Physical findings may include:

• A mass on the nasal cavity;

• Nasal discharge (bloody or runny nose);

• Nasal obstruction;

• Difficulty breathing through the nasal cavity;

• Pressure in the mid-face;

• Double vision (diplopia);

• Proptosis (forward displacement of the eye);

• Chronic infections; and

• Eye papilledema (swelling of the optic disc).

ICD-9: 160.0 – 160.9

PROGRESSION

People with sinonasal malignancy usually present with advanced stage tumors following a rapid onset of symptoms. The prognosis of SNUC is poor once the cancer invades the skull and brain. Survival after treatment with chemotherapy and radiation is generally less than one year.

TREATMENT

By the time this type of cancer is diagnosed, the tumor is usually clinically advanced and surgically unresectable. Treatment for sinonasal cancers involves multimodal therapy including surgical resection, and adjuvant therapy (i.e. chemotherapy, and radiation).

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology report documenting type and stage of tumor;

  • Operative reports; and

  • MRI or CT scans.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.02 A, B,C, D, or E

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.987 Transplant Coronary Artery Vasculopathy

COMPASSIONATE ALLOWANCE INFORMATION

TRANSPLANT CORONARY ARTERY VASCULOPATHY

ALTERNATE NAMES

Transplant Cardiac Allograft Vasculopathy; Cardiac Transplant Vasculopathy

DESCRIPTION

Cardiac transplantation is a type of therapy used in the treatment of end-stage heart failure. Transplant Coronary Artery Vasculopathy (CAV) is the second most common cause of death after malignancy for individuals receiving a cardiac transplant.

Cardiac denervation at the time of heart transplantation usually prevents transplant patients from experiencing angina which is an important warning sign for heart disease. Because of this lack of early clinical symptoms, transplant patients with CAV typically present late with silent myocardial infarction, loss of allograft function or sudden death.

Due to diffuse nature of intimal thickening in CAV, coronary angiography is not as sensitive and accurate as it is in native coronary artery disease (CAD).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing:

• Intravascular ultrasonography (IVUS) is used to detect early coronary artery vasculopathy;

• Coronary angiogram;

• Dobutamine stress echocardiography;

• Single proton emission CT (SPECT); and

• Multidetector CT.

Physical findings:

• Heart failure;

• Dangerous changes in heart rhythm (arrhythmias);

• Sudden cardiac arrest;

• Non-specific graft failure;

• Multi-organ failure;

• Acute rejection;

• Infection;

• Generalized swelling (edema);

• General discomfort or ill feeling; and

• Pain or swelling in the chest close to the heart.

Immunosuppressive medications such as cyclosporine and corticosteroids that are used to treat transplant CAV, may contribute to endothelial cell injury and intimal hyperplasia (thickening of inner lining of coronary artery walls).

ICD-9: 414.06; 414.07

PROGRESSION

Although the progression of transplant CAV is variable, generally the course is progressive with limited therapeutic options.

TREATMENT

The disease process of transplant coronary artery vasculopathy is progressive and generally unresponsive to treatment. Revascularization is effective palliative therapy; retransplantation offers a more definitive solution but is limited by organ shortages.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Cardiology consultation reports; and

  • Imaging studies of the heart and blood laboratory testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

4.02

Listing level severity must be documented.

4.04

Listing level severity must be documented.

4.05

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.989 Usher Syndrome - Type I

COMPASSIONATE ALLOWANCE INFORMATION

USHER SYNDROME - TYPE I

ALTERNATE NAMES

Usher Syndrome I; Usher Disease; Usher-Hallgren Syndrome; Halgren Disease; RP-Dysacusis Syndrome; Dystropia Retinae Dysacusis Disease; Graefe-Usher Syndrome; Retinitis Pigmentosa Deafness Syndrome

DESCRIPTION

Usher Syndrome Type I is an inherited disease that causes deafness, balance problems, and retinitis pigmentosa, an eye disorder that causes progressive vision loss. There are three types of Usher syndrome, with Type I being the most severe. Usher syndrome is caused by mutations in the CDH23, MYO7A, USH1C, and USH1G genes.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing : The diagnosis of Usher syndrome is usually determined through hearing, balance, and vision testing. Age-appropriate audiologic testing is used to evaluate hearing loss. Evaluation of the eyes may include visual field tests to measure peripheral vision; electroretinogram (ERG) to measure the electrical response of the eye’s light sensitive cells; and retinal examination to observe the retina and other structures in the back of the eye. An electronystagmogram (ENG) measures involuntary eye movement that may be associated with balance problems.

Physical findings:

• Progressive degeneration of the retina;

• Motor delays; and

• Balance problems on neuromuscular examination.

ICD-9: 362.74

PROGRESSION

Children with Usher syndrome - Type I are profoundly deaf at birth. Vestibular balance problems generally present by 18 months of age, with difficulties in sitting without support and then delays in walking ability. Vision loss caused by retinitis pigmentosa begins in early childhood, with rapid progression until the child becomes completely blind, usually within the first decade of life.

TREATMENT

There is no cure for this condition. Children with this disorder obtain little or no benefit from hearing aids, and are candidates for cochlear implants. Intervention strategies such as Braille instruction, low vision services or auditory training can help to improve the child’s quality of life.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Complete otologic examination and audiometric testing within 2 months of the otologic examination; and

  • Documentation of structural changes to the eye with an evaluation of visual acuity and visual fields.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

2.02 A or B

Most allowances will be based on meeting either the Hearing or Vision loss listings; although molecular genetic testing results may be included in the medical information, obtaining this genetic testing is not necessarily required for adjudication.

2.03 A or B or C

2.07 A and B

2.10 A or B

2.11 A or B

102.02 A or B

102.03 A or B or C

102.10 A or B

102.11 A or B

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022 TN 22 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 12/28/2018