期刊名称：Child and Adolescent Psychiatry and Mental Health
印刷版ISSN：1753-2000
电子版ISSN：1753-2000
出版年度：2014
卷号：8
期号：1
页码：20
DOI：10.1186/1753-2000-8-20
语种：English
出版社：BioMed Central
摘要：Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene. It is a progressive and highly heterogeneous disease, characterized by the presentation of visceral, neurological, and psychiatric symptoms. Apart from the patients that die early from organic failure, most of the patients with juvenile and adolescent/adult onset of the disease, develop neurological and psychiatric symptoms. In some cases psychiatric signs, mostly psychosis, can be the first sign of the disease. A delay in diagnosis is often seen. By describing the case of a 16-year old girl, we would like to highlight current opinion about NP-C disease and resume recent findings on the clinical presentation, diagnosis and treatment. We focus on the psychiatric signs, and most important the specific combinations that are typical for the disease. There is no curative treatment for NP-C. Miglustat is used to modify neurological signs in NP-C.
关键词：Niemann-pick type C ; Psychosis ; Psychiatric signs ; Children ; Adolescents
