Niemann–Pick disease type C1 presenting with psychosis in an adolescent male

Sabine Sandu (1) , Sabine Jackowski-Dohrmann (1) , Axel Ladner (1) , Michael Haberhausen (1) , Christian Bachmann (1, 2)

1 University Hospital Giessen and Marburg
2 Charité - UniversitätsMedizin = Charité - University Hospital [Berlin]

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.

Mots clés: Adolescence; Niemann–Pick disease; Organic psychosis; Sphingomyelin lipidosis

Sabine Sandu, Sabine Jackowski-Dohrmann, Axel Ladner, Michael Haberhausen, Christian Bachmann. Niemann–Pick disease type C1 presenting with psychosis in an adolescent male. European Child and Adolescent Psychiatry, 2009, 18 (9), pp.583-585. ⟨10.1007/s00787-009-0010-2⟩. ⟨hal-00535140⟩