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Niemann-Pick disease type C1
Subacute or juvenile form (type C).
also see Niemann-Pick disease type C
Epidemiology:
- 95% of Niemann-Pick disease type C
- may appear early in life or be delayed into the teen years
Pathology:
1) cholesterol accumulation in lysosomes
2) sphingomyelinase deficiency not demonstrated
Genetics:
- associated with defects in NPC1
Clinical manifestations:
1) hepatosplenomegaly (moderate)
2) brain damage may be extensive
3) inability to look up & down
4) ataxia
5) athetosis
6) dysphagia
7) loss of vision
8) hearing loss
9) dystonia
Laboratory:
- NPC1 gene mutation
Management:
1) low-cholesterol diet often recommended, but benefit limited
2) prognosis is variable; some patients live into adulthood
Related
cholesterol
chromosomal aberration
Niemann-Pick C1 protein (NPC1)
sphingomyelin
General
Niemann-Pick disease type C
Properties
ACCUMULATION: sphingomyelin
cholesterol
Database Correlations
OMIM 257220
References
- NINDS Niemann-Pick Disease Information Page
https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page