Fact-sheet: Niemann-Pick disease
Updated on 02/26/2021 at 2:40 PM
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Definition
Lysosomal disease due to deficient acid sphingomyelinase activity
Macrophage overload with sphingomyelin
Prevalence: 1/250,000
Autosomal recessive
Growth retardation, osteopenia, osteoporosis
Clinical features
Type A:
- 1/500,000
- Severe and early onset
- Hepatosplenomegaly
- Nausea, vomiting, constipation
- Weight loss
- Recurrent respiratory infections
- Death around 2 to 3 years of age
Type B:
- 1/200,000
- Less severe and more slowly progressive
- Hepatomegaly / splenomegaly
- Thrombocytopenia
- Interstitial lung disease
- Dyslipidemia
- Survival into adulthood possible
Laboratory findings
Measurement of acid sphingomyelinase activity for diagnosis
Radiography
Bone changes (long bone remodeling abnormalities) similar to those found in Gaucher disease
CT
Extraosseous involvement:
- interstitial and alveolar involvement (septal thickening, micronodules, nodules, ground-glass opacities)
- severe atheromatosis (coronary calcifications possible in children)
MRI
Best examination for assessing bone involvement