title: The neuropsychiatry of Niemann-Pick type C disease in adulthood.
abstract: Psychotic symptoms occur in a variety of medical and neurological conditions. The authors describe three young men with a variant form of Niemann-Pick type C disease, a neurodegenerative disorder related to abnormal intracellular cholesterol metabolism, who presented with psychosis in early adulthood. Two patients were treated for schizophrenia for many years prior to a diagnosis of Niemann-Pick type C. The cases presented in this article illustrate the role of changes in both white and gray matter structures in psychosis, and, like the assessments of other neurodevelopmental disorders that predispose toward psychotic presentations, shed light on the underlying pathophysiology of major mental disorders.
authors.affiliation: Neuropsychiatry Unit, Level 2, John Cade Building, Royal Melbourne Hospital, Melbourne 3050, Australia. mark.walterfang@mh.org.au
authors.forename: Mark
authors.initials: M
authors.lastname: Walterfang
authors.forename: Michael
authors.initials: M
authors.lastname: Fietz
authors.forename: Michael
authors.initials: M
authors.lastname: Fahey
authors.forename: Danny
authors.initials: D
authors.lastname: Sullivan
authors.forename: Pamela
authors.initials: P
authors.lastname: Leane
authors.forename: Dan I
authors.initials: DI
authors.lastname: Lubman
authors.forename: Dennis
authors.initials: D
authors.lastname: Velakoulis
mesh_terms: D000328:Adult; D001284:Atrophy; D001714:Bipolar Disorder / Q000175:diagnosis* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002784:Cholesterol / Q000378:metabolism; D003072:Cognition Disorders / Q000175:diagnosis; D003337:Corpus Callosum / Q000473:pathology; D003937:Diagnosis, Differential; D004401:Dysarthria / Q000175:diagnosis / Q000473:pathology; D005347:Fibroblasts / Q000473:pathology; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D019965:Neurocognitive Disorders / Q000175:diagnosis* / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000473:pathology; D012559:Schizophrenia / Q000175:diagnosis* / Q000473:pathology; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D002784:Cholesterol