title: Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.
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.
authors.affiliation: Child Neurology Center, University Hospital Nijmegen, The Netherlands.
authors.forename: C J
authors.initials: CJ
authors.lastname: van de Vlasakker
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: H C
authors.initials: HC
authors.lastname: Wijburg
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D000293:Adolescent; D001284:Atrophy; D001853:Bone Marrow / Q000473:pathology; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D009542:Niemann-Pick Diseases / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D014057:Tomography, X-Ray Computed