title: Niemann-Pick disease type C1 presenting with psychosis in an adolescent male.
abstract: Niemann-Pick disease, a neurovisceral lysosomal lipid storage disorder, is a rare disorder that is unknown to many clinicians. The disease, that often has its onset during childhood or adolescence, shows a polymorphic clinical picture, including psychiatric symptoms. Because of its infrequence, Niemann-Pick disease is diagnosed with an average delay of 6 years. This report presents a case of an adolescent male whose symptoms had led to various hospitalisations and psychiatric diagnoses. When he presented with psychotic symptoms in our department, thorough diagnosis revealed Niemann-Pick disease type C1 as the underlying disease.
authors.affiliation: University Hospital Giessen and Marburg, Campus Marburg, Marburg, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Sandu
authors.forename: Sabine
authors.initials: S
authors.lastname: Jackowski-Dohrmann
authors.forename: Axel
authors.initials: A
authors.lastname: Ladner
authors.forename: Michael
authors.initials: M
authors.lastname: Haberhausen
authors.forename: Christian
authors.initials: C
authors.lastname: Bachmann
mesh_terms: D000293:Adolescent; D000294:Adolescent Behavior / Q000523:psychology; D003072:Cognition Disorders / Q000175:diagnosis; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D006212:Hallucinations / Q000175:diagnosis; D006801:Humans; D008297:Male; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis* / Q000523:psychology; D011618:Psychotic Disorders / Q000175:diagnosis* / Q000523:psychology; D012563:Schizophrenia, Paranoid / Q000175:diagnosis / Q000523:psychology