期刊
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
卷 18, 期 9, 页码 583-585出版社
SPRINGER
DOI: 10.1007/s00787-009-0010-2
关键词
Adolescence; Niemann-Pick disease; Organic psychosis; Sphingomyelin lipidosis
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.
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