Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C.
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.
Shulman
L M
LM
Movement Disorders Center, University of Miami School of Medicine, FL 33136, USA.
David
N J
NJ
Weiner
W J
WJ
D000328:Adult; D017668:Age of Onset; D006801:Humans; D008297:Male; D009542:Niemann-Pick Diseases / Q000150:complications / Q000175:diagnosis*; D011618:Psychotic Disorders / Q000150:complications*