晚发性泰萨二氏病的非典型表现。
Atypical presentation of late-onset Tay-Sachs disease.
机构信息
Department of Neurology, Beth Israel Medical Center, New York, New York, USA; University of Pennsylvania, Parkinson Disease and Movement Disorders Center, 330 S. 9th Street, 2nd Floor, Suite 219, Philadelphia, Pennsylvania, 19107, USA.
出版信息
Muscle Nerve. 2014 May;49(5):768-71. doi: 10.1002/mus.24146. Epub 2014 Feb 24.
INTRODUCTION
Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity.
METHODS
We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment.
RESULTS
Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the HEXA gene, confirming the diagnosis of LOTS.
CONCLUSIONS
The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy.
简介
晚发性泰萨二氏症（LOTS）是一种溶酶体贮积病，由β-己糖胺酶 A 活性缺乏引起。
方法
我们描述了一位 53 岁女性，她表现为成年起病的下肢无力，最初的诊断为特发性进行性肌萎缩。中年时出现小脑共济失调促使我们重新评估。
结果
β-己糖胺酶 A 定量测定显示同工酶缺失。基因检测确定 HEXA 基因的复合杂合突变，确诊 LOTS。
结论
LOTS 的表型谱包括运动神经元病、共济失调、舞蹈手足徐动症、神经病和各种组合的精神症状。该患者突出了多年来不同临床表现的出现，并强调了在进行性肌萎缩的鉴别诊断中需要考虑 LOTS。
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