Affordable Access

Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.

Authors
  • van de Vlasakker, C J
  • Gabreëls, F J
  • Wijburg, H C
  • Wevers, R A
Type
Published Article
Journal
Clinical Neurology and Neurosurgery
Publisher
Elsevier
Publication Date
May 01, 1994
Volume
96
Issue
2
Pages
119–123
Identifiers
PMID: 7924073
Source
Medline
License
Unknown

Abstract

Analysis of recent literature on Niemann-Pick disease type C (NPC) reveals a broad clinical spectrum with diverse neurological manifestations. Diagnosis and assessment are discussed. We present a case with symptomatology that is in concordance with a specific phenotype. The major clinical features are highlighted in a review of recently published cases. NPC could be underdiagnosed and we argue that in the work-up of progressive neurological disorders NPC should be seriously considered, at all ages, whenever there is any combination of visceromegaly, psychomotor deterioration, ataxia, vertical gaze disturbances or developmental delay. The Filipine staining of fibroblasts is a helpful asset in the diagnostic process, to be concluded with the detection of defective intracellular cholesterol esterification.

Report this publication

Statistics

Seen <100 times