TN 20 (12-18)

DI 23022.240 Niemann-Pick Disease (NPD) - Type A

COMPASSIONATE ALLOWANCE INFORMATION

NIEMANN-PICK DISEASE (NPD) - Type A

ALTERNATE NAMES

Acute Neuronopathic form-type A-classic infantile form; Niemann Disease; Sphingomyelin Lipidosis; Sphingomyelinase Deficiency

DESCRIPTION

Niemann-Pick Disease (NPD) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain. NPD Type A, neurodegenerative form, occurs in infants. It is characterized by jaundice, an enlarged liver; and profound brain damage. In NPD Type A, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body.

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

Diagnostic testing: NPD Type A is diagnosed by measuring the amount of acid sphingomyelinase (ASM) in white blood cells. The test can be done using a blood or bone marrow sample. Sphingomyelinase assays (analysis) can also be used. DNA tests can be done to diagnose carriers. Prenatal testing is available when a mutation is known to exist in the family.

Physical findings: Symptoms may include:

  • Lack of muscle coordination;

  • Brain degeneration;

  • Learning problems;

  • Loss of muscle tone;

  • Increased sensitivity to touch;

  • Spasticity;

  • Feeding and swallowing difficulties;

  • Slurred speech; and

  • An enlarged liver and spleen.

There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina.

ICD-9: 272.7, 330.2

PROGRESSION

Infants with NPD - Type A generally die by age 2 or 3.

TREATMENT

There is currently no effective treatment for persons with NPD Type A. Medicines are available to control or relieve many symptoms, such as cataplexy and seizures.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • ASM activity level in blood or bone marrow white blood cells.

  • Physical findings of hepatosplenomegaly (enlarged liver and spleen).

  • Evidence of neurodevelopmental regression and progressive delay.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 110.08 B Catastrophic congenital disorder
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

To Link to this section - Use this URL:
http://policy.ssa.gov/poms.nsf/lnx/0423022240
DI 23022.240 - Niemann-Pick Disease (NPD) - Type A - 12/13/2018
Batch run: 12/13/2018
Rev:12/13/2018