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NEUROLOGY 1995;45:1739-1743
© 1995 American Academy of Neurology

Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C

Lisa M. Shulman, MD, Noble J. David, MD and William J. Weiner, MD

From the Movement Disorders Center (Drs. Shulman and Weiner) and the Department of Neurology (Drs. Shulman, David, and Weiner), University of Miami School of Medicine, Miami, FL.
Supported in part by the National Parkinson Foundation.
Received August 12, 1994. Accepted in final form January 31, 1995.
Address correspondence and reprint requests to Dr. William J. Weiner, Department of Neurology, University of Miami School of Medicine, 1501 N.W. 9th Avenue, Miami, FL 33136.

Niemann-Pick disease type C (NPC) is a neurometabolic genetic dis6order 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.

NEUROLOGY 1995;45: 1739-1743






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