Abstract
The clinical presentation of Niemann‐Pick type C is variable. However, in families hitherto described, the affected individuals in a given sibship show a similar clinical course. A family with histological and biochemical findings of Niemann‐Pick type C is described. Four of the affected siblings presented with an early onset and a fulminant course resembling Niemann‐Pick type A, whereas in the fifth sibling a later onset and a much slower neurological deterioration was observed. Genetic counseling in families with Niemann‐Pick type C should take into consideration the possibility of clinical heterogeneity within the same sibship.
Original language | English |
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Pages (from-to) | 125-131 |
Number of pages | 7 |
Journal | Clinical Genetics |
Volume | 23 |
Issue number | 2 |
DOIs | |
State | Published - Feb 1983 |
Keywords
- Clinical heterogeneity
- Niemann‐Pick type C
- sphingomyelin
- sphingomyelinase