Niemann-Pick disease type C1 presenting with psychosis in an adolescent male.
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.
Sandu
Sabine
S
University Hospital Giessen and Marburg, Campus Marburg, Marburg, Germany.
Jackowski-Dohrmann
Sabine
S
Ladner
Axel
A
Haberhausen
Michael
M
Bachmann
Christian
C
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