王玉, 王苏悦, 金平, 朱玉龙, 夏昆, 孙丹丹, 艾文龙, 付晓明, 叶群荣, 李凯, 王训. O'Sullivan-McLeod综合征一例[J]. 罕见病研究, 2022, 1(2): 189-195. DOI: 10.12376/j.issn.2097-0501.2022.02.013
引用本文: 王玉, 王苏悦, 金平, 朱玉龙, 夏昆, 孙丹丹, 艾文龙, 付晓明, 叶群荣, 李凯, 王训. O'Sullivan-McLeod综合征一例[J]. 罕见病研究, 2022, 1(2): 189-195. DOI: 10.12376/j.issn.2097-0501.2022.02.013
WANG Yu, WANG Suyue, JIN Ping, ZHU Yulong, XIA Kun, SUN Dandan, AI Wenlong, FU Xiaoming, YE Qunrong, LI Kai, WANG Xun. O'Sullivan-McLeod Syndrome: A Case Report[J]. Journal of Rare Diseases, 2022, 1(2): 189-195. DOI: 10.12376/j.issn.2097-0501.2022.02.013
Citation: WANG Yu, WANG Suyue, JIN Ping, ZHU Yulong, XIA Kun, SUN Dandan, AI Wenlong, FU Xiaoming, YE Qunrong, LI Kai, WANG Xun. O'Sullivan-McLeod Syndrome: A Case Report[J]. Journal of Rare Diseases, 2022, 1(2): 189-195. DOI: 10.12376/j.issn.2097-0501.2022.02.013

O'Sullivan-McLeod综合征一例

O'Sullivan-McLeod Syndrome: A Case Report

  • 摘要: O'Sullivan-McLeod综合征是一种非常罕见,但预后较好的运动神经元病(MND)变异型,临床特征为双上肢远端的下运动神经元综合征,目前尚未有效治疗手段。本文报道1例O'Sullivan-McLeod综合征病例,该患者临床表现为中年隐匿起病的渐进性双上肢远端肌无力、萎缩,不伴感觉障碍、认知或行为障碍,无锥体束征。实验室生化检查、神经影像学均未见明显异常,基因筛查未检测到明显异常,肌电图提示双手小肌肉神经源性损害。现回顾分析O'Sullivan-McLeod综合征患者的临床特征,并结合文献报道的18例患者资料进行分析,以期提高临床医生对此认识。

     

    Abstract: O'Sullivan-Mcleod syndrome is a very rare variant of MND with a good prognosis. Its clinical feature is distal lower motor neuron syndrome of both upper limbs, and there is no effective treatment at present. We reported a case of O'Sullivan-Mcleod syndrome in this paper.The patient exhibited with middle-aged progressive distal muscle weakness and atrophy of both upper limbs, without sensory, cognitive or behavioral impairment and without pyramidal tract sign. Laboratory examination, imaging and genetic tests showed no obvious abnormalities. EMG revealed neurogenic damage to the small muscles of both hands. Now we retrospectively analyzed the clinical features of a patient with O'Sullivan-McLeod syndrome, and data from 18 cases for comparative analysis, in order to improve its understanding by clinicians.

     

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