CLCN2基因变异所致的脑白质病伴共济失调一例

Leukoencephalopathy with ataxia caused by mutation of CLCN2 gene:one case report

脑白质病伴共济失调是一种由CLCN2基因变异引起的极为罕见的常染色体隐性遗传病。常见临床表现包括小脑性共济失调、头痛、认知障碍等,其头颅磁共振改变具有明显特征,目前报道的病例较少。现报道1例我院近期收治的48岁女性脑白质病伴共济失调患者的临床资料,供临床诊治参考。

Leukoencephalopathy with ataxia(LKPAT)is a rare autosomal recessive disorder caused by mutations of CLCN2 gene.LKPAT is clinically characterized by cerebellar ataxia,headache and cognition impairment.Brain magnetic resonance imaging showed characteristic hyperintensities along the pyramidal fiber tracts.Few cases have been reported so far.This article reported the clinical data of a 48 years old female patient with LKPAT for clinical reference.