PROGRAM OPERATIONS MANUAL SYSTEMPart DI – Disability InsuranceChapter 230 – Special IssuesSubchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)Transmittal No. 36, 09/09/2020
This is a Quick Action Transmittal. These revisions do not change or introduce new policy or procedure.
Summary of Changes
DI 23022.305 Small Cell Cancer of the Ovary
Added "ICD-10-CM" to section heading;
Added ICD-10 information
DI 23022.310 Small Cell Cancer of the Prostate
DI 23022.311 Small Cell Cancer of the Thymus
Updated table style;
Added ICD-10 information;
Updated punctuation of bulleted list in "Suggested MER for Evaluation" section
DI 23022.315 Small-Cell Cancer of the Female Genital Tract
Updated spacing of bulleted lists in "Physical findings" and "Suggested MER for Evaluation" sections
DI 23022.320 Small Cell Lung Cancer
Updated spacing of bulleted lists in "Physical findings" section
DI 23022.325 Small Intestine Cancer
Updated spacing of bulleted lists in "Physical findings" and "Diagnostic testing" sections
DI 23022.326 Soft Tissue Sarcoma - with Distant Metastases or Recurrent
Updated spacing of bulleted list in "Diagnostic testing" section;
DI 23022.335 Stomach Cancer
Updated punctuation of bulleted list in "Suggested MER for Evaluation" section;
Deleted sentence that was posted twice from "Suggested MER for Evaluation" section
DI 23022.337 Superficial Siderosis of the Central Nervous System
Added row with "Compassionate Allowance Information" heading;
Revised "Listings" to "the listings" in note to adjudicators
DI 23022.340 Anaplastic Thyroid Cancer
DI 23022.343 Tetrasomy 18p
DI 23022.345 Ureter Cancer
DI 23022.346 X-Linked Lymphoproliferative Disease
DI 23022.500 Spinocerebellar Ataxia
DI 23022.510 Tay Sachs Disease, Infantile Type
DI 23022.515 Thanatophoric Dysplasia, Type 1
DI 23022.525 Walker Warburg Syndrome
Added "Physical findings" using information provided in "Description" section
DI 23022.530 Wolman Disease
DI 23022.535 Zellweger Syndrome
DI 23022.570 Ventricular Assist Device Recipient — Left, Right, or Biventricular
Updated spacing of bulleted lists in "Diagnostic testing," "Physical findings," and "Suggested MER for Evaluation" sections
DI 23022.595 Tricuspid Atresia
DI 23022.895 Smith Lemli Opitz Syndrome
DI 23022.900 Spinal Nerve Root Cancer – metastatic or recurrent
DI 23022.915 Wolf-Hirschhorn Syndrome
Updated spacing of bulleted list in "Physical findings" section
DI 23022.920 Xeroderma Pigmentosum
DI 23022.987 Transplant Coronary Artery Vasculopathy
Updated spacing of bulleted lists in "Diagnostic testing" and "Physical findings"
DI 23022.989 Usher Syndrome - Type I
Updated spacing of bulleted list in "Physical findings"
COMPASSIONATE ALLOWANCE INFORMATION
SMALL CELL (OAT CELL) CANCER OF THE
Cancer of the Ovary; Small Cell Carcinoma of the Ovary; SCCO
Small Cell Cancer of the Ovary is an extremely rare type of ovarian cancer that is distinguished from other ovarian epithelial and ovarian germ cell tumors. It is divided into two types, the hypercalcemic and the pulmonary type, of which the latter is extremely rare. Small cell cancer of the ovary tends to occur in young women (under 40 years of age).
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
Diagnostic testing: There is no standard or routine screening test for small cell cancer of the ovary. Pelvic exam, transvaginal ultrasound may detect ovarian cancer. Biopsy is the primary method of diagnosis and staging of the disease.
Physical findings: Symptoms of small cell cancer of the ovary are often subtle. They may include:
Persistent bloating or increased abdominal size;
Pelvic or abdominal pain;
ICD-9: 789.51, 795.82
Small Cell Cancer of the Ovary is a highly aggressive tumor. Metastatic tumor occurs mostly within the pelvis and abdomen, but hematogenous spread also occurs. Only one-third of patients with stage Ia disease have disease-free follow-up periods and almost all patients with higher stage tumors die of disease, usually within 2 years.
The primary form of treatment for Small Cell Cancer of the Ovary is surgery with chemotherapy or radiotherapy, depending on the stage of the disease. Effective treatment of patients with high-stage tumors or recurrent disease has not been achieved; although rare, patients with high stage tumors have survived over 4 years after intensive chemotherapy, radiation therapy, or both.
A pathology report of a biopsy specimen from the ovary showing small cell cancer. There is no substitute for pathology.
SMALL CELL (OAT CELL) CANCER OF THE
Cancer of the Prostate Gland; Prostatic Cancer; Prostatic Carcinoma; Small Cell Carcinoma (SCC) of the Prostate
Small Cell Cancer of the Prostate is a rare cancer occurring less than 1% of all cancers of the prostate. They are aggressive tumors that often present at advanced stages or as metastatic diseases and are occasionally associated with paraneoplastic syndromes. Some small cell carcinomas represent recurrent tumors after hormonal therapy for conventional adenocarcinomas of the prostate. More commonly, small cell carcinoma is present as a component of mixed tumors, which also contain a component of conventional adenocarcinoma. Small cell carcinomas of the prostate are similar to the more common small cell carcinomas of the lung.
They are characterized by the following features:
Solid, sheet-like growth pattern, often with areas of tumor necrosis;
Small, round to spindle cells with scant cytoplasm, high nuclear/cytoplasmic ration and ill-defined borders;
Hyperchromatic nuclei with finely granular chromatin and nuclear molding;
Absent or inconspicuous nucleoli; and
High mitotic rate.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
Diagnostic testing: Small cell carcinomas are often positive for NE markers chromogranin-A, synaptophysin and NSE although one or more of these markers may be negative in any given case. Like small cell carcinomas of the lung, tumor cells often show dot-like cytokeratin staining pattern and are often positive for TTF-1. In contrast to prostatic adenocarcinoma, tumor cells of small cell carcinoma are usually negative for androgen receptor and PSA but exceptions exist.
findings: Small Cell Carcinoma of the Prostate presents as a solid growth pattern, which makes it difficult to separate from adenocarcinomas, however, immunohistochemical study can help in diagnosing this condition.
Hormonal therapy is not effective in treating small cell carcinoma of the prostate and neither is surgery. The general response to chemotherapy, the main form of therapy for small cell carcinoma, is some initial response but progressing to a rather rapid downhill course.
A pathology report of a biopsy specimen from the prostate showing small cell histology. There is no substitute for pathology.
COMPASSIONATE ALLOWANCE INFORMATION
SMALL CELL (OAT CELL) CANCER OF THE
Thymic Small Cell Carcinoma; Small Cell Carcinoma of the Thymus
Small Cell Cancer of the Thymus is a rare aggressive type of cancer in which malignant cancer cells form on the outside surface of the thymus. The thymus is a small organ that is located behind the breast bone (sternum) in the front part of the mediastinum, the space in the chest between the lungs. This type of cancer is among the rarest cancer in humans, comprising of <1% of all adult cancers. The exact cause of this cancer is unknown. These cancers are often associated with autoimmune diseases (i.e. myasthenia gravis, polymyositis, lupus erythematous, rheumatoid arthritis, thyroiditis, Sjogren's syndrome and hypogammaglobulinemia).
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
Medical history and examination;
Imaging tests such as chest x-ray, CT scan and MRI scan;
Blood tests; or
Needle biopsy or surgical biopsy.
Physical findings : The thymus is located near the superior vena cava, the main blood vessel that brings blood from the head and upper body to the heart. Tumors that press on this vessel may cause:
Swelling in the face, neck, and upper chest;
People may have a bluish color on the upper body;
Swelling of the visible veins in the upper body;
Reports of dizziness or light-headedness.
Small cell cancers of the thymus tend to grow fast and spread (metastasize) to other parts of the body and they have a high risk of recurrence. The prognosis is poor, as it is with all small-cell carcinomas.
This type of cancer is generally treated with surgery to remove the tumor, radiation, and chemotherapy. Chemotherapy may be prescribed prior to surgical resection to shrink the size of the tumor.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for
Clinical history and examination that describes the diagnostic features of the impairment; and
Pathology report of a biopsy or surgical specimen of the thymus showing small cell histology.
Suggested Listings for Evaluation:
Small Cell Cancer of the Thymus is rare in children.
* 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.
SMALL-CELL CANCER OF THE FEMALE GENITAL
Small-Cell Cancer (SCC) of the Female Genital Tract (FGT) occurs most frequently in the cervix, but can also occur in the endometrium, ovary, fallopian tube, vagina, and vulva. It is an extremely aggressive cancer with a biological behavior that is similar to small-cell cancer of the lung. Neuroendocrine tumors of the FGT, of which SCC FGT are a subset are rare cancers that account for less than 2% of gynecological cancers.
Diagnostic testing : CT Scan of FGT, brain, chest, abdomen, and pelvis; and bone marrow testing.
Individuals with SCC FGT may be asymptomatic but usually present with:
Abdominal bloating or a mass; or
Symptoms of metastasis disease to the liver, bone, lung, or regional lymph nodes.
ICD-9: 179.;180.1;180.8; 183.0; 183.2; 183.3; 183.5; 183.8; 183.9;184.4; 184.8; 184.9
There is no standard treatment for SCC FGT. Treatment is symptom specific and generally consists of a combination of surgery; radiation; chemotherapy; and immunotherapy.
SCC of the uterus or cervix is a highly aggressive tumor that often metastasizes early and widely by both lymphatic and haematogenous routes and involves regional and distant lymph nodes, lung, bone and brain and liver. The disease-free interval is usually less than two years with an almost 70% rate of recurrence within 12 months of diagnosis. Long-term survival is possible for individuals with cancers that are clinically localized to the cervix but individuals with more advanced stage of the disease is poor with very few long-term survivors.
Suggested MER for Evaluation:
Pathology report showing SCC FGT.
SMALL CELL LUNG CANCER
Small Cell Lung Carcinoma; Oat Cell Lung Cancer; Mixed Small Cell/Large Cell Lung Carcinoma; Combined Small Cell Lung Carcinoma
There are two types of Lung Cancers: Small Cell and Non Small Cell. Small Cell Cancer of the Lung is an aggressive (fast-growing) cancer that forms in tissues of the lung and can spread to other parts of the body. Small cell lung cancer looks small and oval-shaped under a microscope.
Risk factors for small cell lung cancer include: smoking cigarettes, cigars or pipes, now or in the past, exposure to second-hand smoke and exposure to asbestos, or radon.
Diagnostic testing: The diagnosis of small cell lung cancer is confirmed by a pathologist using laboratory studies obtained by bronchoscopy or a CT-guided procedure (fine-needle biopsy). Specimens (stains) for chromogranin, neuron-specific enolase and synaptophysin are usually positive. Staging of the carcinoma is performed by imaging studies (CT scans, MRI, PET scans). These studies provide the information needed for staging at diagnosis, response to treatment, resectionability and metastases.
Hemoptysis (expectoration of blood or of blood-stained sputum);
Dyspnea (shortness of breath);
Decreased appetite; and
Management of limited stage small cell lung carcinoma involves a combination of chemotherapy and thoracic radiation therapies. Treatment can involve either a single modality or a series of multiple modalities. If a complete remission is obtained, prophylactic cranial radiation is offered. At this level of treatment, the disease is potentially curable. However, most individuals are diagnosed with extensive disease and are generally considered incurable but may achieve remission with the use of a combination chemotherapy regimen.
SUGGESTED PROGRAMMATIC ASSESSMENT*
SMALL INTESTINE CANCER
Small Intestine Cancer forms in tissues of the small intestine. The most common type is adenocarcinoma. Most of these tumors occur in the part of the small intestine near the stomach. They may grow and block the intestine.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CODING
Diagnostic testing: The following may be used to diagnose the disease:
• Physical exam and history;
• Laboratory tests;
• Barium enema;
• Fecal occult blood test (FOBT);
• CT scan; and/or
Physical findings: Physical findings for small intestine cancer may include:
• Blood in the stool (feces);
• Dark/black feces;
• A lump in the abdomen;
• Pain or cramps in the abdomen;
• Unexplained weight loss; and
• Episodes of abdominal pain that may be accompanied by severe nausea or vomiting.
Treatment may include surgery, radiation, biologic therapy, and/or chemotherapy.
A pathology report;
An operative report; or
A physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
SOFT TISSUE SARCOMA
Malignant Soft Tissue Sarcoma; Malignant Soft Tissue Tumor; Malignant Mesenchymal Tumor ; Mesenchymal Sarcoma
Soft Tissue Sarcoma is cancer that develops in the connective tissues (e.g. skeletal muscles, tendons, fat, fibrous tissues, deep skin tissues, and blood vessels) and the peripheral nervous system. Adult soft tissue sarcomas can form almost anywhere in the body, but are more common in the head, neck, arms, legs, trunk, and abdomen. In children, the tumors form most often in the arms, legs, or trunk (chest and abdomen). The exact cause of soft tissue sarcoma is unknown. Individuals with environmental exposure to high levels of some chemicals, radiation, or have certain genetic conditions may be at risk for developing soft tissue sarcoma. Soft Tissue Sarcoma with
distant metastases or recurrent is considered an aggressive tumor because it often quickly spreads from the original site to other parts of the body such as lungs and lymph nodes.
Diagnostic testing: The definitive diagnosis of soft tissue sarcoma is based on:
Immunohistochemistry, cytogenic and molecular studies;
Frozen section and intraoperative cytology;
Fluorescence in situ hybridization (FISH); and
Biopsy reports are definitive.
Physical findings: The physical findings are dependent upon the location of the tumor mass and may include localized pain; swelling and warmth at the site of the tumor; fever; and unexplained weight loss.
ICD-9 : 171.X and other codes, depending upon the site
The prognosis of soft tissue sarcoma depends on the type of soft tissue sarcoma; the size of the tumor at first diagnosis; location of the tumor and spread (metastasis) to other organs; whether all of the tumor is removed by surgery; age of the individual; and recurrence. The rate at which these tumors grow is variable. Soft tissue sarcomas are generally large at the time of first diagnosis because they tend not cause any symptoms, until the tumor starts to push aside normal tissue, creating lumps, swelling and other symptoms such as pain or soreness. When soft tissue sarcomas spread to other sites (metastasize) they can have a poor prognosis.
The treatment of soft tissue sarcomas are based on clinical presentation of local vs. metastatic disease. The main treatment of soft tissue sarcoma is surgery, chemotherapy, and radiation, virtually always used in combination.
Clinical history and examination that describes the diagnostic features of the impairment;
Surgical procedures; and
Pathology reports of biopsy.
13.04 A or B
Listing level severity must be documented. To meet the criteria in listing 13.04, the cancer must have regional or distant metastases (13.04 A), or be recurrent following initial antineoplastic therapy (13.04 B).
Gastric Cancer; Gastric Carcinoma; Stomach Carcinoma
Stomach Cancer forms in tissues lining the stomach. Age, diet, and stomach diseases can affect the risk of developing stomach cancer. In the early stages, the following symptoms may occur: indigestion and stomach discomfort, a bloated feeling after eating, mild nausea, loss of appetite, and/or heartburn. In more advanced stages, the following symptoms may occur: blood in the stool, vomiting, unintentional weight loss, stomach pain, jaundice, and/or trouble swallowing.
Diagnostic testing: The following may be used to diagnose the disease: physical exam and history, blood tests, endoscopy, fecal occult blood test (FOBT), barium swallow, biopsy, and/or CT scan.
Physical findings: Most symptoms of gastric cancer reflect advanced disease. Patients may complain of one or more of the following:
Loss of appetite;
The progression of the disease depends on the stage and extent of the cancer, as well as the patient's general health. Stomach cancer is often in an advanced stage when diagnosed and is rarely cured.
Treatment may include surgery, chemotherapy, radiation, or chemo-radiation. Treatment of Stage IV Gastric Cancer may include palliative chemotherapy, endoluminal laser therapy or endoluminal stent placement, palliative surgery, and/or a clinical trial of new combinations of chemotherapy.
A pathology report and an operative report are the preferred methods for documentation;
Clinical note from a surgeon that the cancer is inoperable or unresectable;
Surgical pathology report that the cancer was not completely removed and that the surgical margins were positive for malignancy; and
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
SUPERFICIAL SIDEROSIS OF THE CENTRAL NERVOUS SYSTEM
Superficial Siderosis of the CNS; Superficial Hemosiderosis of the CNS; Superficial Hemosiderosis of the Central Nervous System
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.
t esting: 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.
f indings: Individuals with Superficial Siderosis of the CNS may have difficulty with:
Ability to smell and taste;
Co-ordination and weakness of limbs;
Difficulty with bladder and bowel functions;
Bilateral sciatica; and
Pain in lower back and joints.
Other less common side effects include:
Transient ischemic accidents (TIA) or mini strokes;
Loss of ability to hold one’s head up; and
Compression of gullet muscles.
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 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.
Clinical history and examination that describes the diagnostic features of the impairment;and
Results of MRI/CT scan of the brain surface, spinal cord, or cranial nerves.
ANAPLASTIC THYROID CANCER
Anaplastic Thyroid Carcinoma; Thyroid Cancer
Cancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight).
There are four main types of thyroid cancer based on how the cancer cells look under a microscope:
Anaplastic (makes up for about 2% of all thyroid cancers).
It begins in the follicular cells of the thyroid. The cancer cells tend to grow and spread very quickly. Anaplastic thyroid cancer is very hard to control. Early Thyroid Cancer often does not have symptoms. As the cancer grows, symptoms may include:
A lump in the front of the neck;
Hoarseness or voice changes;
Swollen lymph nodes in the neck;
Trouble swallowing or breathing; and
Pain in the throat or neck that does not go away.
Diagnostic testing: Diagnostic testing should include:
A history and physical exam to detect growths or swelling in the lymph nodes;
Blood tests to detect abnormal levels of TSH;
Ultrasound to detect thyroid nodules that are too small to be felt;
Thyroid scan and biopsy.
A biopsy is the only sure way to diagnose Thyroid Cancer.
Physical findings: Firm cervical masses are highly suggestive of regional lymph node metastasis. Vocal fold paralysis implies involvement of the recurrent laryngeal nerve.
Anaplastic Thyroid Cancer makes up about 2% of all thyroid cancers. Median survival is usually 4-5 months from the time of diagnosis.
People with thyroid cancer have many treatment options. Treatment usually begins within a few weeks after the diagnosis. The choice of treatment depends on the type of thyroid cancer (papillary, follicular, medullary, or anaplastic), the size of the nodule, the age of the individual, and whether the cancer has spread. Cancer may be treated with surgery, thyroid hormone treatment, radioactive iodine therapy, external radiation therapy, or chemotherapy. Most individuals receive a combination of treatments.
The diagnosis of Anaplastic Thyroid Cancer is based on the pathology report from a thyroid biopsy specimen.
Chromosome 18p Tetrasomy; Isochromosome 18p; Chromosome 18 Tetrasomy 18p; Tetrasomy Short Arm of Chromosome 18; 18p Isochromosome; 18p Tetrasomy
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 : 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.
findings : Children with Tetrasomy 18p may have:
Distinctive physical features;
Scoliosis or kyphosis;
Hypotonia or hypertonia;
Birth defects affecting the heart and other organs.
Males with Tetrasomy 18p may be born with undescended testes (cryptorchidism) or hypospadias.
Onset is congenital.
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.
Blood testing; and
Developmental assessment or psychological testing to address allegations of mental impairment may be warranted.
Listing-level severity must be documented and evaluated under the most affected body systems.
Metastatic Transitional Cell Carcinoma of the Ureter (Stage IV); Squamous Cell Cancer of the Ureter; Squamous Cell Carcinoma of the Ureter; Adenocarcinoma of the Ureter; Ureter Carcinoma
Ureter Cancer forms in transitional cells in the lining of the bladder, ureter, or renal pelvis. Transitional cells are cells that can change shape and stretch without breaking apart. Misuse of certain pain medications can affect the risk of developing transitional cell cancer of the renal pelvis or ureter.
Risk factors can include prolonged misuse of certain pain medications, smoking cigarettes, exposure to certain dyes and chemicals used in making leather goods, textiles, plastics, or rubber.
Diagnostic testing: The following tests may be used to diagnose the disease: physical exam and history, urinalysis, ureteroscopy, urine cytology, intravenous pyelogram (IVP), CT scan, and/or ultrasound.
Symptoms may include:
Blood in the urine;
Persistent back pain;
Unintentional weight loss; and/or
Painful or frequent urination.
If the cancer is inoperable or unresectable, treatment with radiation and/or chemotherapy may be utilized for palliation, but the prognosis is poor.
Duncan Syndrome; Duncan Disease; Epstein-Barr Virus-Induced Lymphoproliferative Disease in Males; Immunodeficiency-5 (IMD5); EBV Susceptibility (EBVS); Purtilo syndrome
X-Linked Lymphoproliferative Disease (XLD) is an immune system disorder that is found almost exclusively in males. Individuals with XLD have an increased risk of infection because their body cannot properly regulate the number of immune system cells (lymphocytes) and blood cells. People have two main types of lymphocytes, B cells and T cells, which work together to clear infections and keep the immune system in check. Individuals with XLD lack the proper regulation between B cells and T cells and are therefore unable to affectively destroy invading viruses, such as the usually harmless Epstein-Barr virus (EBV). Typically, individuals with XLD do not display severe symptoms of a compromised immune system until they have been exposed to EBV. EBV infections, however, are common and can become life-threatening in people with XLD resulting in symptoms that include fever, hepatitis, an enlarged spleen, abnormally low numbers of antibodies, and, in some cases, lymphoma and other blood disorders. XLD is caused by mutations in the SH2D1A gene which makes a protein SAP, a key regulator in immunity, as well as the XIAP gene. XLD is inherited in an X-linked recessive pattern.
Diagnostic testing: A definitive diagnosis of XLD is based on:
Genetic analysis for mutations in the SH2D1A gene and XIAP gene;
CT or MRI scans of the liver and spleen showing abnormal enlargement;
Laboratory testing showing abnormally high concentrations of lymphocytes in the blood (lymphocytosis);
Laboratory tests showing deficient or absent antibody response to EBV antigens (e.g., EBV nuclear antigen);
Laboratory tests showing abnormally low levels of all classes of immunoglobulins (acquired hypogammaglobulinemia) in the blood and body secretions.
Physical findings: Findings may include:
Lymphoid granulomatosis of the lungs;
Meningitis or encephalitis;
Thrombocytopenia or bone marrow failure; and
XLD is generally diagnosed between the ages of six months to 10 years of age when the initial symptoms of XLD become evident. The prognosis of XLD depends on the occurrence of complications, such as lymphomas and hemophagocytic lymphohistiocytosis. Without allogenic (donor) bone marrow transplantation, approximately 70% of individuals with XLD may not survive beyond the age of 10 years.
Treatment of XLD may include anti-viral medicines, immunoglobulin therapy or corticosteroids, chemotherapy or antithymocyte globulin. The definitive treatment for XLD is transplantation. XLD affects multiple functions in the body requiring the coordination of care by pediatricians, immunologists, hematologists, oncologists, and other health care professionals.
Clinical history and examination that describes diagnostic features of the impairment;
Imaging tests including CT scans and MRI;
Laboratory testing of the blood; and
13.05 A, B, or C
Listing level malignant neoplastic (for example, lymphoma) and/or immunodeficiency findings must be documented; diagnosis or laboratory testing results alone will not meet listing severity.
113.05 A, B, or C
SCA; Infantile-onset Spinocerebellar Ataxia; Autosomal Dominant Spinocerebellar Ataxia (ADSCA)
Spinocerebellar Ataxia (SCA) refers to a group of genetic disorders characterized by slowly progressive difficulties with gait, hand movements, speech and abnormal eye movement. These disorders were previously known as autosomal dominant cerebellar ataxias (ADSCA). People with SCA have progressive damage in the areas of the brain that control movement in the arms, legs, hands, and eyes. When this type of brain damage occurs, the cells in the part of the brain that controls movement degenerate (atrophy) resulting in ataxia. The prevalence of SCA’s is estimated to be about 1-4/100,000.
Diagnostic testing : Genetic testing and MRI can distinguish genetic from acquired (non-genetic) causes of ataxia.
findings : This disorder causes a slow progression of ataxia of gait, stance, limbs, and dysarthria (speech disturbance) with or without oculomotor (movement of the eyeball) dysfunction due to cerebellar degeneration.
ICD-9 : 334
There is currently no cure or treatment to slow the progression of SCA. Medications can help manage the symptoms (stiffness, depression, spasticity and sleep disorders). Occupational therapy can be helpful in developing ways to accommodate the individual in performing daily activities such as handwriting, buttoning, and use of eating utensils. Ambulatory aides such as canes, walkers and wheelchairs have been prescribed for gait ataxia. Speech therapy and/or computer-based devices for those with dysarthria and severe speech deficits.
The rate of progression for SCA varies with the gene mutation identified and, in general, is faster with earlier onset or increased length of the trinucleotide expansion repeat in those with this particular genetic finding. In SCA1, 2, and 3, time to becoming wheelchair dependent is 13-15 years and time to death is 20-30 years. The prognosis for SCA6 and SCA11 is less severe with a very slow worsening of symptoms, and persons with SCA8 and SCA11 have a normal lifespan.
Suggested MER for Evaluation:
Clinical examination that describes diagnostic features of the impairment;
Molecular genetic testing;
Clinical neurological examination;
If molecular genetic testing is not available, then a clinical neurological examination may be sufficient to establish a medical equals determination as long as all treatable causes of ataxia have been ruled out. It should be stated that a positive family history supports the diagnosis of a hereditary disorder but does not rule out an acquired, treatable disorder in a particular case.
TAY SACHS DISEASE, INFANTILE TYPE
Infantile-onset or infantile form TSD; Amaurotic Familial Idiocy; Amaurotic Familial Infantile Idiocy; Cerebromacular Degeneration; GM2 Gangliosidosis Type 1; GM2 Gangliosidosis (B variant); HexA deficiency; Hexosaminidase A deficiency; Hexosaminidase Alpha-Subunit Deficiency (Variant B); Infantile Cerebral Ganglioside; Infantile Cerebral Ganglioside Lipidosis; Tay-Sachs Sphingolipidosis; TSD; Sphingolipidosis, Tay-Sachs; B Variant GM2-Gangliosidosis; GM2 Gangliosidosis – Tay-Sachs; Lysosomal Storage Disease – Tay-Sachs Disease
Tay-Sachs Disease, Infantile Type (TSD) is a rare, inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. This disease occurs when the body lacks an enzyme called b-hexosaminidase A (HexA), which acts as a catalyst to help break down a chemical found in nerve tissue called ganglioside. Without this enzyme, gangliosides, and ganglioside GM2, build up in tissues and nerve cells in the brain. Mutations in the HEXA gene cause TSD, and infantile type TSD is the most common form. Infants with this disorder typically appear normal early in life, but after 6 months their development slows and the muscles used for motor skills such as turning over, sitting, and crawling deteriorate. Affected infants also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with infantile TSD experience seizures, vision and hearing loss, intellectual disability and paralysis. Signs and symptoms of this disease includes: deafness, decreased eye contact, loss of muscle strength, delays of mental and social skills, progressive loss of cognitive and intellectual function (dementia), increased startle reaction, irritability, listlessness, loss of motor skills, paralysis, seizures, and slow growth. Children with infantile TSD often develop cherry red spots behind the retina, which is associated with gradual loss of vision.
Diagnostic testing: Chromosomal analysis showing mutations in the HEXA gene of chromosome 15.
Physical findings :
Low muscle tone;
Eye examination may reveal a cherry-red spot in the macula; and
ICD- 9 : 330.1
Clinical examination including eye exam that describes diagnostic features of the impairment; and
Results of genetic chromosome testing or enzyme analysis.
Infantile TSD meets listing severity; Juvenile -onset and adult-onset TSD have later onset and more variable course, and should be evaluated under the affected body systems (Special Senses, Neurological, and Mental).
THANATOPHORIC DYSPLASIA, TYPE 1
TD1; TDI; Dwarf, Thanatophoric; Thanatophoric Dwarfism; Thanatophoric Short Stature; TD type 1; TD type I
Thanatophoric Dysplasia, Type 1 (TD1) is a severe skeletal disorder characterized by a normal-shaped skull, curved thigh bones and flattened bones of the spine (platyspondyly). The term thanatophoric is Greek for “death bearing”. Infants with TD1 are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help. This disorder is caused by mutations in the FGFR3 gene. The gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth. This condition occurs in 1 in 20,000 to 50,000 newborns.
Prenatal ultrasound with findings of growth deficiency, ventriculomegaly, macrocephaly, well-ossified skull and spine, platyspondyly of the vertebrae, micromelia, bowed femurs, narrow chest cavity with shortened ribs and polyhydramnios; and
Molecular genetic testing of the gene FGFR3.
Growth deficiency of limbs of less than 5%;
Platyspondyly of the vertebrae;
Large anterior fontanel;
Low nasal bridge.
Newborns with TD1 are stillborn or die shortly after birth. Very rare reports of survival into early childhood have been cited. Long-term survivors need neurologic, orthopedic, and audiologic evaluations, CT to monitor for craniocervical constriction, and EEG to monitor for seizure activity.
Treatment measures of the few survivors may include: antiepileptic drugs to control seizures, shunt placement for hydrocephaly, suboccipital decompression for relief of craniocervical junction constriction, and hearing aids.
Genetic testing; and
WWS; WWS Muscular Dystrophy; Warburg syndrome; Pagon Syndrome; Chemke Syndrome; Hydrocephalus, Agyria and Retinal Dysplasia; HARD +/- Syndrome; HARDE syndrome; Muscle-Eye-Brain disease; Cerebro-oculomuscular syndrome; Lissencephaly type II; Oculocerebral malformation
Walker Warburg Syndrome (WWS) is a rare form of autosomal recessive CMD and is the most severe type of CMD. WWS is present at birth and results in fatal neurological lesions in the brain that are characterized by smoothness of the surface of the brain, thickening of the cortex and other brain abnormalities. Several genetic mutations occur in WWS: POMT1, POMT2 and fukutin protein.
Diagnostic testing: Laboratory tests showing elevated creatine kinase (CK), myopathic/dystrophic muscle pathology and altered a-dystroglycan. EMG showing myopathic changes in the brain. Genetic testing is definitive.
Physical findings: Symptoms include:
Hypotonia (weak muscle tone);
Developmental delay with intellectual disability;
Eye abnormalities (retinal detachment, cataracts, conjunctivitis) which lead to blindness;
Cleft lip and cleft palate.
WWS is the most severe form of the CMD with most children dying before age three. The few children who survive until 5 years of age have severe intellectual disability and delayed development.
There is currently no cure for Walker Warburg Syndrome. Supportive care is the only form of treatment currently available.
Clinical examination including a description of physical findings;
Electromyography or nerve conduction tests; and
Blood and enzyme tests.
Acid Lipase disease; Cholesterol Ester Storage disease; Acid Cholesterol Ester Hydrolase deficiency, Wolman Type; Lysosomal Acid Lipase deficiency, Wolman Type; Familial Xanthomatosis; Liposomal Acid Lipase Deficiency, Wolman Type; LAL Deficiency, Wolman Type
Wolman disease is a type of autosomal recessive disorder caused by mutations of the lysosomal acid lipase (LIPA) gene. The disorder occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. These fatty substances are called cholesterol esters (a transportable form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Both male and female infants are affected by the disorder.
Diagnosis is made through:
Molecular analysis of cells or tissue to identify inherited metabolic disorders; and
Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency).
In some forms of the disorder, a urine analysis can identify the presence of stored material.
findings: Infants with the disorder appear normal at birth but quickly develop:
Progressive mental deterioration;
Calcium deposits in the adrenal glands, causing them to harden;
Enlarged liver and grossly enlarged spleen (hepatosplenomegaly); and
Infants with Wolman disease usually die by age 1 from malnutrition.
Description of physical findings;
Genetic testing reports; and
Blood and urine analysis.
Diagnostic testing: Biochemical abnormalities that are found in the blood and/or urine should be confirmed in cultured fibro blasts. The tests are used to detect accumulation of very long chain fatty acids (VLCFA) levels. Bony stippling (chondrodysplasia punctata) may be present on radiological studies and this is suggestive of ZS in the proper clinical setting. MRI of the brain may identify hypomyelination, cortical gyral abnormalities, and germinolytic cysts that are highly suggestive of ZS. Molecular genetic testing for mutations in the PEX genes.
Physical findings: Some physical findings with this condition include:
Unusual problems in prenatal development; an enlarged liver (hepatomegaly);
High level of iron and copper in the blood;
Poor muscle tone;
Difficulty sucking or swallowing;
Brushfield spots (gray or pale yellow spots that go around the sides of the iris);
Optic nerve hypoplasia;
Characteristic facial appearance;
Inability to feed;
Liver cysts with hepatic (liver) dysfunction;
Normal to large head circumference;
Thumb rotation; and
Stippled chondral calcification of the patella and acetabulum.
If available in the MER, Plasma VLCFA abnormalities as outlined above or mutations in the PEX genes confirm a diagnosis of one of the PBDs;
If such testing is not available, then a complete review of the clinical history, course, and laboratory studies on which the diagnosis is suspected will be needed for review; and
To differentiate the three PBDs and to evaluate the severity of the specific case, a complete physical and neurological examination.
VAD; Left Ventricular Assist Device Recipient; LVAD Recipient; Right Ventricular Assist Device Recipient; RVAD Recipient; Biventricular Assist Device Recipient; BiVAD Recipient; Heart Pump Recipient; Implantable Ventricular Assist Device Recipient; Implantable VAD Recipient; Long Term Ventricular Assist Device Recipient; Long Term VAD Recipient; Left Ventricular Assist System Recipient; LVAS Recipient; Heart Assist System Implantation Recipient
A Ventricular Assist Device (VAD) is a mechanical pump surgically implanted to assist the heart in pumping blood. The two basic types of VAD are the left ventricular assist device (LVAD) and the right ventricular assist device (RVAD). If both the LVAD and RVAD are used at the same time, then they are called a biventricular assist device (BiVAD). VADs are implanted in people who have weakened hearts or advanced heart failure.
There are three primary reasons for implanting a VAD:
VADs are used during or after surgery, until a weakened heart recovers (“bridge to recovery”).
VADs are used for people waiting for a heart transplant until a donor heart can be obtained (“bridge to transplant”).
VADs are used as a long-term treatment for people with end stage heart failure who are not candidates for heart transplant (for example, people with clotting disorders, irreversible kidney failure, severe liver disease, or infections that cannot be treated with antibiotics). This is also known as “destination therapy.”
Diagnostic testing: The diagnostic indicators that are evaluated prior to a VAD placement may include:
Blood tests to monitor for infections.
Physical findings :
Coronary artery disease and heart attack;
High blood pressure;
Faulty heart valves;
Damage to the heart muscle (cardiomyopathy);
Myocarditis (inflammation of the heart muscles);
Congenital heart defects; and
Abnormal heart rhythms (heart arrhythmias).
Prior to implantation of the VAD, individuals are admitted into the hospital to prepare them for surgery. During this time, patients receive instruction on how the device works, safety precautions, how to respond to alarms, what to do in the event of a loss of electrical power, personal care before and after the implant, and how to prepare for changes in activities of daily living. Following implantation, there is a risk of infection, internal bleeding, heart failure, and mechanical breakdown of the VAD. Response to implantation of a VAD depends on the severity of the heart condition. Individuals with complications following surgery may require cardiac rehabilitation. Cardiac rehabilitation involves prescribed exercise training, education on heart healthy living, and counseling to reduce stress. VAD recipients are medically monitored on a regular basis.
People who require mechanical circulatory support of a VAD may require prolonged ventilation due to postoperative respiratory failure. Mobility is often limited due to multiple medical problems, life-support or monitoring equipment and weakness. These individuals may require physical therapy intervention, respiratory therapy, and cardiac rehabilitation on a case-by-case basis.
Clinical description of findings;
Hospital admission and discharge summary;
Tricuspid Valve Atresia; Tri atresia; Valve disorder – tricuspid atresia; Congenital heart – tricuspid atresia; Cyanotic heart disease – tricuspid atresia; Congenital agenesis of the tricuspid valve
Tricuspid atresia is a rare type of congenital heart disease in which the tricuspid valve is missing, abnormally developed or blocked by a solid sheet of tissue. The defect blocks blood flow from the right atrium of the heart to the right ventricle of the heart. As a result, the right ventricle tends to be very small and underdeveloped (hypoplastic). When this type of defect occurs, the right side of the heart cannot properly pump blood to the lungs as it normally would. As a result, the lungs cannot supply the rest of the body with the oxygen that it needs. This type of blockage causes the blood to flow from the upper right chamber of the heart to the upper left chamber of the heart through a hole in the wall between them. This hole is either a heart defect (atrial septal defect) or an enlarged natural opening (foramen ovale) which is supposed to close soon after birth. If the infant does not have a hole through which the blood can flow, surgery may be needed to create an opening.
Some infants with tricuspid atresia also have a hole between the right ventricle and the left ventricle (ventricular septal defect), a condition, which will need to be medically monitored and may require surgical intervention.
Adults, who had corrective heart surgeries as infants, may develop problems with their heart functioning later in life. Over time, the surgical treatments that were used at infancy to repair the heart defect may leave scar tissue behind, increasing the chances of abnormal heart rhythm (arrhythmia), and of developing a focus for subacute endocarditis.
Imaging studies; and
Cyanosis (bluish discoloration of the skin);
Tires easily especially during feeding;
Difficulty breathing, and
Symptoms of heart failure including fatigue, swelling in the legs, ankles, feet, and abdomen;
Sudden weight gain from fluid retention; and
Irregular or rapid heartbeat.
Tricuspid atresia is treated with multiple staged surgical interventions and medications. Multiple surgical procedures will be required during the life of the individual.
A diagnosis of tricuspid atresia is usually made shortly after birth. Infants who survive to adulthood may have medical complications requiring multiple follow-up surgeries. Complications such as the formation of blood clots in the arteries of the lungs, strokes, complaints of fatigue, and heart rhythm abnormalities will require life style changes monitoring for infection and life-long follow-up with a cardiologist. If surgical interventions fail, then a heart transplant may be necessary.
Clinical history and examination that describes the diagnostic features of the impairment and response to treatment;
Cardiology consultation report;
SMITH LEMLI OPITZ SYNDROME
SLO Syndrome; SLOS; RSH Syndrome; DHCR7 Deficiency; Smith-Lemli-Optiz Syndrome Type II
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: 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.
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);
Heart and lung defects;
Brain malformations; and
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.
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.
Imaging studies of affected organs (brain, kidneys, heart, or lungs); and
Psychological testing with evidence of intellectual impairment.
SPINAL NERVE ROOT CANCER
Tumor- Spinal cord; Spinal Root Neoplasm; Spinal Cord Tumor
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 : 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;
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:
Increased muscle tone;
Loss of pain and temperature sensation;
Muscle weakness; and
Tenderness in the spine.
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.
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.
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.
Requires documented metastases or recurrence.
WHS; Chromosome 4p Deletion Syndrome; Chromosome 4p Monosomy; Del(4p) Syndrome; Monosomy 4p; Partial Monosomy 4p; Pitt-Rogers-Danks Syndrome; PRDS
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: 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).
Craniofacial defects (dysmorphic facial features);
Prenatal-onset of growth deficiency followed by growth delay;
Hypotonia (floppy muscle tone); and
Other findings include:
Skeletal anomalies, such as scoliosis or kyphosis;
Congenital heart defects;
Conductive hearing loss;
Skin changes, such as mottled or dry skin;
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.
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 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.
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.
XP; DeSanctis-Cacchione Syndrome; Xeroderma Pigmentosum Variant Type; XP-V
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 : XP is diagnosed by genetic lab studies documenting chromosomal breakage and abnormal DNA repair in cells exposed to ultraviolet light.
findings: Physical findings include:
Clouding of the cornea;
Keratitis (inflammation of the cornea);
Blepharitis (inflammation of the eye lids);
Rough-surfaced growths (solar keratoses); and
Premature aging of eyes, lips, mouth, and tongue.
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.
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.
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
TRANSPLANT CORONARY ARTERY
Transplant Cardiac Allograft Vasculopathy; Cardiac Transplant Vasculopathy
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).
Intravascular ultrasonography (IVUS) is used to detect early coronary artery vasculopathy;
Dobutamine stress echocardiography;
Single proton emission CT (SPECT); and
Dangerous changes in heart rhythm (arrhythmias);
Sudden cardiac arrest;
Non-specific graft failure;
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
Although the progression of transplant CAV is variable, generally the course is progressive with limited therapeutic options.
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.
Cardiology consultation reports; and
Imaging studies of the heart and blood laboratory testing.
Listing level severity must be documented.
USHER SYNDROME - TYPE I
Usher Syndrome I; Usher Disease; Usher-Hallgren Syndrome; Halgren Disease; RP-Dysacusis Syndrome; Dystropia Retinae Dysacusis Disease; Graefe-Usher Syndrome; Retinitis Pigmentosa Deafness Syndrome
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 : 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.
Progressive degeneration of the retina;
Motor delays; and
Balance problems on neuromuscular examination.
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.
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.
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.
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