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- Title
- Niemann‑Pick Disease
- ImagePath
- System
- Lysosomal storage disease
- Overview
- AR sphingomyelinase deficiency → sphingomyelin accumulation.
- Pathophysiology
- Phagocytic dysfunction, neuronal death.
- Presentation
- Infantile: progressive neurodegeneration, hypotonia, hepatosplenomegaly, foam cells, cherry‑red macula.
- Diagnosis
- SMPD1 enzyme assay; filipin staining; molecular test.
- Management
- Supportive; investigational miglustat, ERT.
- Epidemiology
- Tags