Identification Number:
DI 23022 TN 17
Intended Audience:See Transmittal Sheet
Originating Office:ORDP OISP
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 04 - 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. 17, 08/2018

Audience

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

Originating Component

ODP

Effective Date

Upon Receipt

Background

This section contains the list and templates for five new Compassionate Allowances (CAL) conditions.

Summary of changes

We are adding five new conditions to the list of CAL conditions.

DI 23022.080 List of Compassionate Allowance (CAL) Conditions

We updated the chart to add five new conditions to the list of CAL conditions.

DI 23022.163 Fibrolamellar Cancer

We added this section to provide instructions for the addition of Fibrolamellar Cancer to the list of CAL conditions.

DI 23022.233 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

We added this section to provide instructions for the addition of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome to the list of CAL conditions.

DI 23022.234 Megalencephaly-Capillary Malformation Syndrome

We added this section to provide instructions for the addition of Megalencephaly-Capillary Malformation Syndrome to the list of CAL conditions.

DI 23022.337 Superficial Siderosis of the Central Nervous System

We added this section to provide instructions for the addition of Superficial Siderosis of the Central Nervous System to the list of CAL conditions.

DI 23022.343 Tetrasomy 18p

We added this section to provide instructions for the addition of Tetrasomy 18p of to the list of CAL conditions.


DI 23022.080 List of Compassionate Allowance (CAL) Conditions

The following is a complete list of CAL conditions:

Section Title

Section Number

Acute Leukemia

DI 23022.085

Adrenal Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.090

Adult Non-Hodgkin Lymphoma

DI 23022.921

Adult Onset Huntington Disease

DI 23022.923

Aicardi-Goutieres Syndrome

DI 23022.665

Alexander Disease (ALX) -- Neonatal and Infantile

DI 23022.095

Allan-Herndon-Dudley Syndrome

DI 23022.925

Alobar Holoprosencephaly

DI 23022.670

Alpers Disease

DI 23022.675

Alpha Mannosidosis -- Type II and III

DI 23022.680

Alstrom Syndrome

DI 23022.350

Alveolar Soft Part Sarcoma

DI 23022.927

Amegakaryocytic Thrombocytopenia

DI 23022.355

Amyotrophic Lateral Sclerosis (ALS)

DI 23022.100

Anaplastic Adrenal Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.105

Angelman Syndrome

DI 23022.600

Aortic Atresia

DI 23022.540

Angiosarcoma

DI 23022.106

Aplastic Anemia

DI 23022.929

Astrocytoma -- GRADE III and IV

DI 23022.110

Ataxia Telangiectasia

DI 23022.360

Atypical Teratoid/Rhabdoid Tumor

DI 23022.111

Batten Disease

DI 23022.365

Beta Thalassemia Major

DI 23022.931

Bilateral Optic Atrophy -- Infantile

DI 23022.933

Bilateral Retinoblastoma

DI 23022.370

Bladder Cancer -- with distant metastases or inoperable or unresectable

DI 23022.115

Breast Cancer -- with distant metastases or inoperable or unresectable

DI 23022.125

CACH -- Vanishing White Matter Disease -- Infantile and Childhood Onset Forms

DI 23022.127

Canavan Disease (CD)

DI 23022.130

Carcinoma of Unknown Primary Site

DI 23022.685

Cardiac Amyloidosis- AL Type

DI 23022.580

Caudal Regression Syndrome- Types III and IV

DI 23022.935

Cerebro Oculo Facio Skeletal (COFS) Syndrome

DI 23022.135

Cerebrotendinous Xanthomatosis

DI 23022.690

Child Neuroblastoma- - with distant metastasis or recurrent

DI 23022.695

Child Non-Hodgkin Lymphoma- - recurrent

DI 23022.700

Child T-Cell Lymphoblastic Lymphoma

DI 23022.937

Chondrosarcoma- - with multimodal therapy

DI 23022.705

Chronic Idiopathic Intestinal Pseudo Obstruction

DI 23022.136

Chronic Myelogenous Leukemia -- Blast Phase

DI 23022.140

Coffin-Lowry Syndrome

DI 23022.141

Congenital Lymphedema

DI 23022.939

Congenital Myotonic Dystrophy

DI 23022.143

Cornelia de Lange Syndrome- - Classic Form

DI 23022.710

Corticobasal Degeneration

DI 23022.605

Creutzfeldt-Jakob Disease (CJD) -- Adult

DI 23022.145

Cri du Chat Syndrome

DI 23022.375

Degos Disease, Systemic

DI 23022.380

DeSanctis Cacchione Syndrome

DI 23022.941

Dravet Syndrome

DI 23022.943

Early-Onset Alzheimer’s Disease

DI 23022.385

Edwards Syndrome (Trisomy 18)

DI 23022.390

Eisenmenger Syndrome

DI 23022.545

Endometrial Stromal Sarcoma

DI 23022.945

Endomyocardial Fibrosis

DI 23022.550

Ependymoblastoma (Child Brain Tumor)

DI 23022.150

Esophageal Cancer

DI 23022.155

Esthesioneuroblastoma

DI 23022.156

Ewing Sarcoma

DI 23022.715

Farber’s Disease (FD) -- Infantile

DI 23022.160

Fatal Familial Insomnia

DI 23022.949

Fibrodysplasia Ossificans Progressiva

DI 23022.395

Fibrolamellar Cancer

DI 23022.163

Follicular Dendritic Cell Sarcoma -- metastatic or recurrent

DI 23022.720

Friedreichs Ataxia (FRDA)

DI 23022.165

Frontotemporal Dementia (FTD) Picks Disease -- Type A – Adult

DI 23022.170

Fryns Syndrome

DI 23022.951

Fucosidosis – Type I

DI 23022.725

Fukuyama Congenital Muscular Dystrophy

DI 23022.400

Fulminant Giant Cell Myocarditis

DI 23022.953

Galactosialidosis – Early and Late Infantile Types

DI 23022.730

Gallbladder Cancer

DI 23022.175

Gaucher Disease (GD) --Type 2

DI 23022.180

Glioblastoma Multiforme (Brain Tumor)

DI 23022.185

Glioma Grade III and IV

DI 23022.735

Giant Axonal Neuropathy

DI 23022.181

Gluteric Acidemia – Type II

DI 23022.470

Head and Neck Cancers -- with distant metastasis or inoperable or uresectable

DI 23022.190

Heart Transplant Graft Failure

DI 23022.555

Heart Transplant Wait List – 1A/1B

DI 23022.560

Hemophagocytic Lymphohistiocytosis

DI 23022.405

Hepatoblastoma

DI 23022.745

Hepatopulmonary Syndrome

DI 23022.955

Hepatorenal Syndrome

DI 23022.957

Histiocytosis Syndromes

DI 23022.750

Hoyeaal-Hreidarsson Syndrome

DI 23022.191

Hutchinson-Gilford Progeria Syndrome

DI 23022.755

Hydranencephaly

DI 23022.760

Hypocomplementemic Urticarial Vasculitis Syndrome

DI 23022.765

Hypophosphatasia- Perinatal (Lethal) and Infantile Onset Types

DI 23022.770

Hypoplastic Left Heart Syndrome

DI 23022.565

I Cell Disease

DI 23022.775

Idiopathic Pulmonary Fibrosis

DI 23022.420

Infantile Free Sialic Acid Storage Disease

DI 23022.780

Infantile Neuroaxonal Dystrophy (INAD)

DI 23022.195

Infantile Neuronal Ceroid-Lipofuscinoses

DI 23022.425

Inflammatory Breast Cancer (IBC)

DI 23022.200

Intracranial Hemangiopericytoma

DI 23022.201

Jervell and Lange-Nielsen Syndrome

DI 23022.959

Joubert Syndrome

DI 23022.202

Junctional Epidermolysis Bullosa Lethal Type

DI 23022.430

Juvenile Onset Huntington Disease

DI 23022.785

Kidney Cancer -- inoperable or unresectable

DI 23022.205

Kleefstra Syndrome

DI 23022.207

Krabbe Disease (KD) --Infantile

DI 23022.210

Kufs Disease Type A and B

DI 23022.790

Large Intestine Cancer -- with distant metastasis or inoperable, unresectable or recurrent

DI 23022.215

Late Infantile Neuronal Ceroid-Lipofuscinoses

DI 23022.435

Leigh’s Disease

DI 23022.440

Leiomyosarcoma

DI 23022.961

Leptomeningeal Carcinomatosis

DI 23022.216

Lesch-Nyhan Syndrome (LNS)

DI 23022.220

Lewy Body Dementia

DI 23022.610

Liposarcoma – metastatic or recurrent

DI 23022.221

Lissencephaly

DI 23022.795

Liver Cancer

DI 23022.225

Lowe Syndrome

DI 23022.615

Lymphomatoid Granulomatosis - Grade III

DI 23022.800

Malignant Brain Stem Gliomas - Childhood

DI 23022.805

Malignant Ectomesenchymoma

DI 23022.226

Malignant Gastrointestinal Stromal Tumor

DI 23022.963

Malignant Germ Cell Tumor

DI 23022.965

Malignant Multiple Sclerosis

DI 23022.620

Malignant Renal Rhabdoid Tumor

DI 23022.227

Mantle Cell Lymphoma (MCL)

DI 23022.230

Maple Syrup Urine Disease

DI 23022.445

Marshall-Smith Syndrome

DI 23022.231

Mastocytosis - Type IV

DI 23022.815

MECP 2 Duplication Syndrome

DI 23022.967

Medulloblastoma - with metastasis

DI 23022.820

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

DI 23022.233

Megalencephaly-Capillary Malformation Syndrome

DI 23022.234

Menkes Disease - Classic or Infantile Onset Form

DI 23022.969

Merkel Cell Carcinoma - with metastasis

DI 23022.825

Merosin Deficient Congenital Muscular Dystrophy

DI 23022.450

Metachromatic Leukodystrophy - Late Infantile

DI 23022.235

Mitral Valve Atresia

DI 23022.575

Mixed Dementia

DI 23022.455

MPS I, formerly known as Hurler Syndrome

DI 23022.415

MPS II, formerly known as Hunter Syndrome

DI 23022.410

MPS III, formerly known as Sanfilippo Syndrome

DI 23022.495

Mucosal Melanoma

DI 23022.460

Multicentric Castleman Disease

DI 23022.625

Multiple System Atrophy

DI 23022.630

Myocolonic Epilepsy and Ragged Red Fibers Syndrome

DI 23022.830

Neonatal Adrenoleukodystrophy

DI 23022.465

(Neonatal) Glutaric Acidemia

DI 23022.470

Nephrogenic Systemic Fibrosis

DI 23022.835

NFU-1 Mitochondrial Disease

DI 23022.971

Niemann-Pick Disease (NPD) -- type A

DI 23022.240

Niemann-Pick Disease Type C

DI 23022.475

Nonketotic Hyperglycinemia

DI 23022.973

Non-Small Cell Lung Cancer -- with metastases to or beyond the hilar nodes or inoperable, unresectable or recurrent

DI 23022.245

Obliterative Bronchiolitis

DI 23022.840

Ohtahara Syndrome

DI 23022.845

Oligodendroglioma Brain Tumor- Grade III

DI 23022.246

Ornithine Transcarbamylase (OTC) Deficiency

DI 23022.250

Orthochromatic Leukodystrophy with Pigmented Glia

DI 23022.850

Osteogenesis Imperfecta (OI) -- Type II

DI 23022.255

Osteosarcoma, formerly known as Bone Cancer -- with distant metastases or inoperable or unresectable

DI 23022.120

Ovarian Cancer -- with distant metastases or inoperable or unresectable

DI 23022.260

Pallister-Killian Syndrome

DI 23022.261

Pancreatic Cancer

DI 23022.265

Paraneoplastic Pemphigus

DI 23022.635

Patau Syndrome (Trisomy 13)

DI 23022.480

Pearson Syndrome

DI 23022.855

Pelizaeus-Merzbacher Disease- - Classic Form

DI 23022.860

Pelizaeus-Merzbacher Disease- - Connatal Form

DI 23022.865

Peripheral Nerve Cancer- - metastatic or recurrent

DI 23022.870

Peritoneal Mesothelioma

DI 23022.270

Peritoneal Mucinous Carcinomatosis

DI 23022.975

Perry Syndrome

DI 23022.875

Phelan-McDermid Syndrome

DI 23022.977

Pleural Mesothelioma

DI 23022.275

Pompe Disease -- Infantile

DI 23022.280

Primary Central Nervous System Lymphoma

DI 23022.640

Primary Effusion Lymphoma

DI 23022.645

Primary Progressive Aphasia

DI 23022.485

Progressive Bulbar Palsy

DI 23022.281

Progressive Multifocal Leukoencephalopathy

DI 23022.490

Progressive Supranuclear Palsy

DI 23022.650

Prostate Cancer- Hormone Refractory Disease— or with visceral metastases

DI 23022.282

Pulmonary Atresia

DI 23022.585

Pulmonary Kaposi Sarcoma

DI 23022.655

Retinopathy of Prematurity- Stage V

DI 23022.979

Rett (RTT) Syndrome

DI 23022.285

Revesez Syndrome

DI 23022.286

Rhabdomyosarcoma

DI 23022.880

Rhizomelic Chondrodysplasia Punctata

DI 23022.885

Roberts Syndrome

DI 23022.981

Salivary Tumors

DI 23022.290

Sandhoff Disease

DI 23022.295

Schindler Disease - - Type I

DI 23022.890

Seckel Syndrome

DI 23022.296

Severe Combined Immunodeficiency- Childhood

DI 23022.983

Single Ventricle

DI 23022.590

Sinonasal Cancer

DI 23022.985

Sjogren-Larsson Syndrome

DI 23022.297

Skin Malignant Melanoma—with metastases

DI 23022.810

Small-Cell Cancer of the Large Intestine

DI 23022.300

Small-Cell Cancer of the Ovary

DI 23022.305

Small-Cell Cancer of the Prostate

DI 23022.310

Small-Cell Cancer of the Thymus

DI 23022.311

Small-Cell Cancer of the Uterus

DI 23022.315

Small-Cell Lung Cancer

DI 23022.320

Small Intestine Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.325

Smith Lemli Opitz Syndrome

DI 23022.895

Soft Tissue Sarcoma – with distant metastases or recurrent

DI 23022.326

Spinal Muscular Atrophy (SMA) -- Types 0 and 1

DI 23022.330

Spinal Nerve Root Cancer- - metastatic or recurrent

DI 23022.900

Spinocerebellar Ataxia

DI 23022.500

Stiff Person Syndrome

DI 23022.905

Stomach Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.335

Subacute Sclerosing Panencephalitis

DI 23022.505

Superficial Siderosis of the Central Nervous System

DI 23022.337

Tabes Dorsalis

DI 23022.910

Tay Sachs Disease

DI 23022.510

Tetrasomy 18p

DI 23022.343

Thanatophoric Dysplasia, Type 1

DI 23022.515

The ALS/Parkinsonism Dementia Complex

DI 23022.660

Thyroid Cancer

DI 23022.340

Transplant Coronary Artery Vasculopathy

DI 23022.987

Tricuspid Atresia

DI 23022.595

Ullrich Congenital Muscular Dystrophy

DI 23022.520

Ureter Cancer -- with distant metastases or inoperable, unresectable or recurrent

DI 23022.345

Usher Syndrome- Type I

DI 23022.989

Ventricular Assist Device Recipient

DI 23022.570

Walker Warburg Syndrome

DI 23022.525

Wolf-Hirschhorn Syndrome

DI 23022.915

Wolman Disease

DI 23022.530

Xeroderma Pigmentosum

DI 23022.920

X-Linked Lymphoproliferative Disease

DI 23022.346

X-Linked Myotubular Myopathy

DI 23022.347

Zellweger Syndrome

DI 23022.535

DI 23022.163 Fibrolamellar Cancer

FIBROLAMELLAR CANCER

ALTERNATE NAMES

Fibrolamellar Hepatocellular Carcinoma; Fibrolamellar Carcinoma; Eosinophilic Hepatocellular Carcinoma with Lamellar Fibrosis; Eosinophilic Hepatocellular Cancer with Lamellar Fibrosis; Polygonal Cell Hepatocellular Carcinoma with Fibrous Stroma; Polygonal Cell Hepatocellular Carcinoma with Fibrous Stroma; Polygonal Cell Hepatocellular Cancer with Fibrous Stroma; Hepatocellular Carcinoma with Increased Stromal Fibrosis; Hepatocellular Cancer with Increased Stromal Fibrosis; Eosinophilic Glassy Cell Hepatoma; Fibrolamellar Oncocytic Hepatoma; Fibrolamellar Variant of Hepatocellular Carcinoma; Fibrolamellar Variant of Hepatocellular Cancer; FL-HCC

 

DESCRIPTION

Fibrolamellar Carcinoma (FL-HCC) is a rare and aggressive form of liver cancer, which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FL-HCC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, more common conditions. The exact underlying cause of FL-HCC is poorly understood, although a novel DNAJB1-PRKACA fusion gene resulting from a chromosome 19 mutation is present in most cases and distinguishes it from other liver cancers. FL-HCC cells are about three times larger than normal liver cells. Unlike other forms of liver cancer, FL-HCC typically occurs in the absence of underlying liver inflammation, scarring or infection by hepatitis B or C; thus, specific risk factors for this condition remain unidentified.

 

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

Diagnostic testing: The diagnosis of FL-HCC is made by imaging study such as ultrasound, CT scan or MRI scan, and by microscopic evaluation of biopsy material.

Physical findings: The signs and symptoms of FL-HCC may include:

  • Abdominal pain;

  • Loss of appetite;

  • Weight loss;

  • Malaise;

  • Jaundice;

  • Nausea and/or vomiting;

  • Palpable liver mass;

  • Migratory thrombophlebitis or venous thrombosis; and

  • Gynecomastia (excessive breast tissue in males).

ICD-9: 155.0

 

PROGRESSION

The long-term prognosis for people with FL-HCC is generally better than other forms of liver cancer, particularly when treated with surgical resection. The reported 5-year survival rates range from 51 to 70% following liver resection.

The prognosis is less favorable in people with unresectable disease. The median survival of these patients is approximately 14 months. FL-HCC has a recurrence rate of about 50% within three years and about 80% within five years. Metastases to the lymph nodes and distant sites are present in about half of patients at diagnosis.

 

TREATMENT

FL-HCC is usually treated with surgery to remove the tumor and the surrounding lymph nodes (resection) the same as other hepatocellular carcinomas. Liver transplantation may be considered for individuals who are not candidates for surgical resection. The Food and Drug Administration (FDA) has approved the use of Sorafenib (Nexavar) an orphan chemotherapy drug for treatment of FL-HCC. However, Sorafenib has shown only limited efficacy against FL-HCC.

 

SUGGESTED PROGRAMMATIC ASSESSMENT*

   

Suggested MER for evaluation:

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

  • Pathology/biopsy report of the cancer.

  • CT scan, MRI scan, or ultrasound reports.

   

Suggested Listings for Evaluation:

   

DETERMINATION

LISTING

REMARKS

Meets

13.19

113.03

Meets 13.19 for adults. Meets 113.03 for children with initial or recurrent disease.

* 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 23022.233 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

MEGACYSTIS MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME

ALTERNATE NAMES

MMIH Syndrome; Berdon Syndrome; MMIHS; Megacystis Microcolon Intestinal Hypoperistalsis Hydronephrosis Syndrome; Megacystis Microcolon Hypoperistalsis Syndrome

 

DESCRIPTION

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) is a rare congenital condition characterized by abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis); very small colon (microcolon); and decreased or absent intestinal movements (intestinal peristalsis). Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium (the first bowel movement the baby has). Other intestinal anomalies may be present like intestinal malrotation. Many problems with the urinary tract result from the bladder dysfunction. It is part of a group of conditions caused by mutations in the ACTG2 gene, and is inherited in an autosomal dominant manner. However, medical scientists believe that many cases of MMIH are caused by spontaneous mutations in the ACTG2 gene.

 

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

Diagnostic testing: Genetic testing documenting mutation(s) in the ACTG2 gene confirms the diagnosis.

Imaging Studies and Physical Examination Findings for MMIH show various congenital abnormalities of the digestive tract, including:

  • Microcolon (very small colon);

  • Malrotation of the gut;

  • Decreased or absent intestinal movements;

  • Short bowel;

  • Abnormalities of the urinary tract including renal dysplasia;

  • Hydronephrosis;

  • Enlargement of the ureter;

  • Undescended testes or bilateral streak gonads (underdeveloped gonads);

  • Heart anomalies;

  • Umbilical hernia; or

  • Omphalocele.

ICD-9: 751.5

 

PROGRESSION

Long-term survival usually requires total parenteral nutrition and urinary catheterization or diversion. Most long-term survivors have ileostomies. In families with an inherited MMIH-causing mutation, some family members with a mutation have milder features, living into adolescence and early adulthood. While there are reports of longer survival, the prognosis and life expectancy remains poor, and it is still fatal in many cases. The main causes of death include sepsis, malnutrition, or multiple organ failure.

 

TREATMENT

There is currently no cure for MMIH. Treatment is supportive. Multi-visceral organ transplantation may be considered.

 

SUGGESTED PROGRAMMATIC ASSESSMENT*

   

Suggested MER for evaluation:

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

  • Imaging study results (X-ray, MRI, CT scan).

  • Genetic testing confirming diagnosis of the impairment.

   

Suggested Listings for Evaluation:

   

DETERMINATION

LISTING

REMARKS

Meets

5.08

105.07

105.08

Equals

5.07

* 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 23022.234 Megalencephaly-Capillary Malformation Syndrome

MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME

ALTERNATE NAMES

M-CM; M-CAP; Macrocephaly Capillary Malformation Syndrome; Megalencephaly Capillary Malformation Polymicrogyria Syndrome; Macrocephaly Cutis Marmorata Telangiectasia Congenital; MCMTC

 

DESCRIPTION

Megalencephaly-Capillary Malformation Syndrome (M-CAP or M-CM) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). Additional brain abnormalities can include excess fluid within the brain (hydrocephalus) and abnormalities in the brain's structure, such as Chiari malformation and polymicrogyria. Abnormal brain development can lead to abnormalities of somatic growth with body and brain asymmetry, seizures, low muscle tone, developmental delays, and distinctive facial features. Some affected individuals have fusion of the skin between two or more fingers or toes (cutaneous syndactyly). There is also an increased risk for congenital heart defects such as Tetralogy of Fallot. M-CAP is caused by mutations in the PIK3CA gene.

 

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

Diagnostic testing: Imaging studies documenting structural brain defects (such as megalencephaly, hemimegalencephaly, or polymicrogyria); and genetic studies documenting abnormal gene sequencing in the PIK3CA gene confirm the diagnosis.

Physical findings:

  • Macrocephaly, frontal bossing, dysmorphic face;

  • Hypotonia;

  • Cutaneous capillary malformations;

  • Focal or generalized somatic overgrowth, limb or digit asymmetry;

  • Digital anomalies (syndactyly, polydactyly);

  • Joint laxity; and

  • Abnormally soft, thick skin and underlying tissue (“doughy”).

ICD-9: 759.89

 

PROGRESSION

Prognosis depends on the severity of symptoms. Early death due to feeding difficulties, complex cardiac heart disease, or arrhythmia, has been reported in rare occasions. The gene involved in M-CAP is also associated with several types of cancer (in particular, a childhood form of kidney cancer known as Wilms tumor) and noncancerous tumors in the nervous system known as meningiomas.

 

TREATMENT

Management of M-CAP requires a multidisciplinary approach (involving neurology, ophthalmology, cardiology, orthopedics, audiometry, physiotherapy, psychology and dermatology). Neurosurgery may be necessary for hydrocephalus or posterior fossa decompression.

 

SUGGESTED PROGRAMMATIC ASSESSMENT*

   

Suggested MER for evaluation:

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

  • MRI of brain.

  • Genetic testing confirming mutations in the PIK3CA gene.

   

Suggested Listings for Evaluation:

   

DETERMINATION

LISTING

REMARKS

Meets

111.02

111.04

112.05

112.14

Listing level severity must be documented.

* 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 23022.337 Superficial Siderosis of the Central Nervous System

SUPERFICIAL SIDEROSIS OF THE CENTRAL NERVOUS SYSTEM

ALTERNATE NAMES

Superficial Siderosis of the CNS; Superficial Hemosiderosis of the CNS; Superficial Hemosiderosis of the Central Nervous System

 

DESCRIPTION

Superficial Siderosis of the Central Nervous System (CNS) is a progressive disease of the central nervous system caused by the accumulation of hemosiderin (iron salt) deposits on the brain surface, spinal cord, or cranial nerves.

The hard iron salt deposits are created from chronic bleeding into the subarachnoid space or brain surface, underneath the three protective membranes. In most cases, the source of the bleeding is never located due to a considerable time delay before diagnosis. More than one bleed is required to cause superficial siderosis.

 

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

Diagnostic testing: An MRI of the head, spinal cord or cranial nerves is needed to make the diagnosis of this disease. CT myelogram may assist with identifying leakage from a dural defect.

Physical findings: Individuals with Superficial Siderosis of the CNS may have difficulty with:

  • Hearing;

  • Ability to smell and taste;

  • Balance;

  • Co-ordination and weakness of limbs;

  • Difficulty with bladder and bowel functions;

  • Eye movements;

  • Early dementia;

  • Bilateral sciatica; and

  • Pain in lower back and joints.

Other less common side effects include:

  • Transient ischemic accidents (TIA) or mini strokes;

  • Orthostatic headache;

  • Cognitive difficulties;

  • Loss of ability to hold one’s head up; and

  • Compression of gullet muscles.

ICD-9: 331.0

 

PROGRESSION

Superficial Siderosis of the CNS progresses slowly over the course of decades. This disease affects people of a wide range of ages with men being diagnosed approximately three times more frequently than women. The number of reported cases of superficial siderosis has increased with advances in MRI technology, but it remains a rare disease.

 

TREATMENT

Treatment varies based on the underlying cause and severity of the condition and may include surgery and medications. If identified early in the diagnosis, ablating or plugging the cause of bleeding may help restrict further complications. The bleeds may be attributed to complications in the spine such as tumors or other similar problems.

Some other forms of medication such as iron chelators have been tried but have not definitely proven to be beneficial.

Some individuals may be at risk of developing dementia and are treated with folic acid in tablet form, or vitamin B, in daily tablet form or monthly injection.

To lessen the chance of a return of TIA’s or strokes various forms of medication are prescribed such as blood thinners and the traditional half of an aspirin a day.

For those experiencing permanent headaches, anti-depressants in mild doses are found to provide long-term relief, along with common medication such as Panadol.

 

SUGGESTED PROGRAMMATIC ASSESSMENT*

   

Suggested MER for evaluation:

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

  • Results of MRI/CT scan of the brain surface, spinal cord, or cranial nerves.

   

Suggested Listings for Evaluation:

   

DETERMINATION

LISTING

REMARKS

Meets

11.17

 

* 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 23022.343 Tetrasomy 18p

TETRASOMY 18p

ALTERNATE NAMES

Chromosome 18p Tetrasomy; Isochromosome 18p; Chromosome 18 Tetrasomy 18p; Tetrasomy Short Arm of Chromosome 18; 18p Isochromosome; 18p Tetrasomy

 

DESCRIPTION

Tetrasomy 18p is a chromosomal disorder that occurs when the short arm of chromosome 18 (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. The signs and symptoms vary among affected individuals, and may include seizures, recurrent ear infections, mild to moderate hearing loss, gastrointestinal problems, and growth hormone deficiency.

The prognosis for persons with Tetrasomy 18p varies depending on the involved body system. However, degrees of cognitive impairment or intellectual disability are life-long. Psychiatric conditions, such as attention deficit hyperactivity disorder (ADHD) and anxiety, as well as social and behavioral challenges have also been reported.

Tetrasomy 18p is a rare disorder, known to affect about 250 families worldwide. It is usually not inherited, as most affected individuals have no history of the disorder in their family.

 

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

Diagnostic testing: The diagnosis of Tetrasomy 18p is made by physical examination and routine chromosome analysis from a blood sample, such as fluorescence in situ hybridization (FISH), and microarray analysis.

Physical findings: Children with Tetrasomy 18p may have:

  • Distinctive physical features;

  • Microcephaly;

  • Strabismus;

  • Scoliosis or kyphosis;

  • Hypotonia or hypertonia;

  • Spasticity; and

  • Birth defects affecting the heart and other organs.

Males with Tetrasomy 18p may be born with undescended testes (cryptorchidism) or hypospadias.

ICD-9: 758.89

 

PROGRESSION

Onset is congenital.

 

TREATMENT

Treatment of Tetrasomy 18p is symptomatic and supportive and requires ongoing routine care by a multidisciplinary team specializing in the care of children and adults with multiple system involvement. The treatment depends upon the clinical features present and may include evaluations by ophthalmology, otolaryngology and audiology, cardiology, orthopedics, neurology, endocrinology, and gastroenterology. Children may also benefit from referral for developmental services and specific medical treatment for congenital anomalies.

 

SUGGESTED PROGRAMMATIC ASSESSMENT*

   

Suggested MER for evaluation:

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

  • Genetic testing.

  • Blood testing.

  • 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

111.07

112.04

112.05

12.05

Listing-level severity must be documented and evaluated under the most affected body systems.

* 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 TN 17 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 08/20/2018