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I型唾液酸沉积症(樱桃红斑-肌阵挛综合征)。

Sialidosis type I (cherry red spot-myoclonus syndrome).

作者信息

Ganguly Sutapa, Gabani Rajesh U, Chakraborty Sandeep, Ganguly S B

机构信息

Department of Paediattrics, IPGMER & SSKM Hospital, Kolkata.

出版信息

J Indian Med Assoc. 2004 Mar;102(3):174-5.

Abstract

Sialidosis type 1 or the cherry red spot-myoclonus syndrome (CRSM) is an autosomal recessive disorder with the onset in adolescence of myoclonus and gradual visual failure. Here, a case of CRSM in a 12-year-old Bengali Muslim girl with the history of myoclonic jerks of limbs and the body since last 2 years and gradual impairment of vision since last one year is presented with a brief review of the literature.

摘要

1型唾液酸沉积症或樱桃红斑-肌阵挛综合征(CRSM)是一种常染色体隐性疾病,在青春期发病,表现为肌阵挛和逐渐进展的视力减退。本文报告了一例12岁孟加拉穆斯林女孩的CRSM病例,该女孩在过去两年中出现肢体和身体的肌阵挛性抽搐,在过去一年中视力逐渐受损,并对相关文献进行了简要回顾。

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