Niemann-Pick type C disease: case report and review of the literature.

作者全名："Liu, Chang; Li, Jiamin; Xu, Tao; Song, Min; Luo, Haiyan"

作者地址："[Liu, Chang; Xu, Tao; Song, Min; Luo, Haiyan] Chongqing Med Univ, Affiliated Hosp 2, Dept Neurol, Chongqing, Peoples R China; [Li, Jiamin] Nanchong Mental Hlth Ctr, Dept Neurol, Nanchong, Sichuan, Peoples R China"

通信作者："Luo, HY (通讯作者)，Chongqing Med Univ, Affiliated Hosp 2, Dept Neurol, Chongqing, Peoples R China."

来源：NEUROENDOCRINOLOGY LETTERS

ESI学科分类：BIOLOGY & BIOCHEMISTRY

WOS号：WOS:001101641000006

JCR分区：Q4

影响因子：0.6

年份：2023

卷号：44

期号：2

开始页：101

结束页：104

文献类型：Review

关键词：Niemann-Pick type C disease; NPC1 mutation; diagnosis; schizophrenia; adult

摘要："Niemann-Pick type C (NPC) disease is an autosomal recessive disease of lysosomal lipid storage disorder caused by mutations in either the NPC1 (95%) or the NPC2 (5%) gene. We report a case of a 23-year-old woman who initially showed ataxia, altered gait and tremor. She subsequently developed cognitive decline and psychiatric symptoms. She had asphyxia at birth and was diagnosed as hypoxic-ischemic encephalopathy and cerebral palsy before. The chest computed tomography (CT) incidentally showed splenomegaly. Brain magnetic resonance imaging (MRI) showed no significant abnormalities. Genetic analysis revealed compound heterozygous mutations of NPC1. The clinical picture of NPC can be markedly variable, so comprehensive clinical evaluation, neurological examination and laboratory test are quite important for the diagnosis of NPC."

基金机构：　

基金资助正文：