摘要
Abstract
Objective To analyze the clinical characteristics and diagnostic key points of Niemann-Pick disease(NPD)type C1 and explore the efficacy of Miglustat in the treatment of type C NPC(NPD-C).Methods A retrospective analysis was performed on the clinical data and genetic testing results of a single adolescent patient diagnosed with type C1 NPD-C,admitted to Nanjing Medical University Affiliated Brain Hospital in March 2023.Additionally,publicly published cases of NPD-C were retrieved from databases including Wanfang Data Knowledge Service Platform,China National Knowledge Infrastructure and PubMed,the clinical characteristicss of this disease were analyzed.Results A total of 11 cases were included,comprising the aforementioned patient and 10 publicly reported cases in China.The primary clinical manifestations observed in these 11 patients included hepatosplenomegaly,jaundice,vertical supranuclear gaze palsy,muscle tone disorders,ataxia,epilepsy,cognitive impairment,dysphagia,dysarthria,and psychiatric disorders.Miglustat(Zavesca ©)emerged as a specific therapeutic agent,showing significant improvement or stabilization of neurological symptoms,particularly in the treatment of dysphagia.Conclusions NPD-C should be highly suspected in patients presenting with characteristic hepatosplenomegaly and neurological symptoms such as vertical supranuclear gaze palsy,ataxia,cognitive impairment,and dysphagia,confirmation requires a clear family history,physical examination,and genetic testing.Treatment involves corresponding symptomatic and specific therapies.关键词
C型尼曼-匹克病/麦格司他/随访Key words
Niemann-Pick disease type C/Miglustat/follow-up分类
医药卫生
