Program Operations Manual System (POMS)
TN 33 (08-20)
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COMPASSIONATE ALLOWANCES INFORMATION
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SANDHOFF DISEASE
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ALTERNATE NAMES
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Gangliosidosis GM2 type II; Gangliosidosis Beta Hexosaminidase B Deficiency; Hexosaminidases
A and B Deficiency; Sandhoff-Jatzkewitz disease
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DESCRIPTION
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Sandhoff Disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration
of the central nervous system. Sandhoff disease is caused by a mutation (defect) in
the HEXB gene. This defect causes a deficiency of the enzyme beta-hexosaminidase,
which results in the accumulation of certain fats (lipids) in the brain and other
organs of the body.
Infantile form: Onset of the disorder usually occurs at 6 months of age. Infants with Sandhoff disease
typically appear normal until the age of 3 to 6 months, when development slows and
muscles used for movement weaken.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Positive gene testing confirms the diagnosis of this disease. A simple blood enzyme
analysis test that measures HEXB activity can identify individuals and carriers of
Sandhoff Disease.
Physical
findings: Sandhoff Disease symptoms may include:
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Startle reaction to sound;
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Progressive mental and motor deterioration;
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Macrocephaly (an abnormally enlarged head);
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Cherry-red spots in the eyes;
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Myoclonus (shock-like contractions of a muscle);
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Frequent respiratory infections;
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Doll-like facial appearance, and
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An enlarged liver and spleen.
ICD-9: 330.1
ICD-10: E75.01
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PROGRESSION
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Onset occurs by 6 months of age. The prognosis for individuals with Sandhoff disease
is poor. In the Infantile form, affected children usually do not survive past the
age of 3 and death is generally caused by respiratory infections.
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TREATMENT
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There is no specific treatment for Sandhoff Disease. Supportive treatment includes
proper nutrition and hydration, and keeping the airway open. Anticonvulsants may initially
control seizures. In other ongoing studies, a small number of children have received
an experimental treatment using transplants of stem cells from umbilical cord blood.
Although these limited trials have not yet produced a treatment or cure, scientists
continue to study these and other investigational approaches.
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| SUGGESTED
PROGRAMMATIC ASSESSMENT* |
Suggested MER for Evaluation:
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Genetic testing for a mutation in the HEXB gene, and a clinical description of the
physical and developmental features;and
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If definitive genetic testing is not available, the results of other laboratory studies
such as enzyme assays, molecular cell analysis, and tissue biopsy can be substituted.
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| Suggested Listings for
Evaluation: |
| DETERMINATION |
LISTING
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REMARKS |
| Meets |
110.08 B |
Catastrophic congenital abnormality or disease. |
| Equals |
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| * 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.
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