Document Detail

Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.
MedLine Citation:
PMID:  7924073     Owner:  NLM     Status:  MEDLINE    
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.
C J van de Vlasakker; F J Gabreëls; H C Wijburg; R A Wevers
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Clinical neurology and neurosurgery     Volume:  96     ISSN:  0303-8467     ISO Abbreviation:  Clin Neurol Neurosurg     Publication Date:  1994 May 
Date Detail:
Created Date:  1994-10-24     Completed Date:  1994-10-24     Revised Date:  2009-10-14    
Medline Journal Info:
Nlm Unique ID:  7502039     Medline TA:  Clin Neurol Neurosurg     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  119-23     Citation Subset:  IM    
Child Neurology Center, University Hospital Nijmegen, The Netherlands.
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MeSH Terms
Bone Marrow / pathology
Brain / pathology
Brain Diseases, Metabolic / classification,  diagnosis*,  genetics,  pathology
Fibroblasts / pathology
Magnetic Resonance Imaging
Neurologic Examination
Neuropsychological Tests
Niemann-Pick Diseases / classification,  diagnosis*,  genetics,  pathology
Tomography, X-Ray Computed

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