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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
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Article Abstract
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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ataxia
chorea
choreoathetosis
dementia
dysarthria
dystonia
gaze palsy
gaze palsy,supranuclear
gaze palsy,vertical
genetic neurologic disorders
hepatomegaly
hepatosplenomegaly
inborn errors of metabolism
lipid storage disorder of CNS
misdiagnosis
movement disorder
movement disorder,extrapyramidal
neurologic disease,diagnoses of
Niemann-Pick disease
psychiatric problems in neurologic disorders
psychosis
review article
schizophrenia
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