Clinical heterogeneity in a sibship with Niemann‐Pick disease type C

S. Yatziv, Z. Leibovitz‐Ben Gershon, A. Ornoy, G. Bach

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


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 languageEnglish
Pages (from-to)125-131
Number of pages7
JournalClinical Genetics
Issue number2
StatePublished - Feb 1983
Externally publishedYes


  • Clinical heterogeneity
  • Niemann‐Pick type C
  • sphingomyelin
  • sphingomyelinase


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