Niemann-Pick disease type C1 presenting with psychosis in an adolescent male
Sabine Sandu, Sabine Jackowski-Dohrmann, Axel Ladner, Michael Haberhausen, Christian Bachmann, Sabine Sandu, Sabine Jackowski-Dohrmann, Axel Ladner, Michael Haberhausen, Christian Bachmann
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.
References
- J Neuropsychiatry Clin Neurosci. 2006 Spring;18(2):158-70
- Lancet Neurol. 2007 Sep;6(9):765-72
- Dev Med Child Neurol. 1998 Feb;40(2):126-9
- Brain. 2007 Jan;130(Pt 1):120-33
- J Neurol Neurosurg Psychiatry. 2003 Apr;74(4):528-9
- J Inherit Metab Dis. 2002 Oct;25(6):491-500
- Proc Natl Acad Sci U S A. 2009 Feb 17;106(7):2377-82
- Am J Med Genet A. 2007 Jun 1;143A(11):1204-11
Source: PubMed