Program Operations Manual System (POMS)
TN 35 (08-20)
COMPASSIONATE ALLOWANCES INFORMATION
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FUCOSIDOSIS - TYPE I
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ALTERNATE NAMES
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Alpha-L-Fucosidase Deficiency; ALF; Fucosidosis Infantile Type; Fucosidosis Severe
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DESCRIPTION
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Fucosidosis Type I is a rare genetic disease that affects the brain, spinal cord, and many other organs,
resulting in cellular death. Type I (infantile onset) is the most severe type, with
manifestations starting around 10 months of age (range 3-18 months) with progressive
dysfunction of the affected organs.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Urine testing that is positive for the presence of oligosaccharides (partially broken
down sugars); Absent or deficiencies in activity of the enzyme alpha-L-fucosidase
in blood or skin samples confirms the diagnosis.
Physical
findings: Physical findings for individuals with Fucosidosis Type I include:
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Distinct facial features such as, flat face, depressed nasal bridge, and bulging forehead;
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Progressive psychomotor and neurological deterioration;
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Abnormal bone development;
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Enlargement of the heart, liver and spleen;
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Abnormal posture (bent arms, clenched fists, and legs held out straight, arms that
are bent toward the body and wrists, and fingers that are bent and held on the chest);
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A characteristic “cherry red spot” may be noted on the retina.
ICD-9: 271.8
ICD-10: E77.1
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PROGRESSION
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Pulmonary infection and neurological deterioration are the major causes of death,
usually by age 10 years.
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TREATMENT
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Currently there is no cure for this disorder. Bone marrow transplantation (BMT) has
been tried on an experimental basis, but not enough information is available to know
if BMT is an effective treatment option.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and physical examination that describes the diagnostic features of
the impairment;
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Documentation of mental and motor deterioration, seizures, skin findings, facial features,
etc; and
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Laboratory investigation should include identification of the deficient enzyme activity
in leucocytes, urine or skin fibroblasts.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 B
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Equals
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* 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.
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