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Niemann-Pick disease type C(NPC)is a neurometabolic genetic disorder that is distinguished from Niemann-Pick disease by its later onset,more insidious progression,variable visceromegaly,and abnormalities of intracellular cholesterol metabolism.We describe a patient who presented with an 8-year history of psychosis requiring chronic neuroleptic therapy for a presumed diagnosis of schizophrenia.He was subsequently diagnosed with NPC as the emerging features of dementia,ataxia,dysarthria,and vertical supranuclear ophthalmoplegia were recognized.The characteristic features of adult-onset NPC and the obstacles to early diagnosis are reviewed. |
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