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