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南亚的僵人综合征。

Stiff person syndrome in South Asia.

作者信息

Chang Thashi, Lang Bethan, Vincent Angela

机构信息

Department of Clinical Medicine, Faculty of Medicine, University of Colombo, 25, Kynsey Road, Colombo, 00800, Sri Lanka.

Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Level 5/6 West Wing, Oxford, OX3 9DU, UK.

出版信息

BMC Res Notes. 2016 Oct 18;9(1):468. doi: 10.1186/s13104-016-2276-z.

Abstract

BACKGROUND

Stiff person syndrome is a highly disabling, progressive autoimmune disorder of the central nervous system characterized by muscle rigidity and spasms. Stiff person syndrome is rare, but is believed to be under diagnosed with only 14 cases been reported among a 1.7 billion population in South Asia. We report the first authenticated case from Sri Lanka.

CASE PRESENTATION

A 55-year-old Sri Lankan female presented with difficulty in walking and recurrent falls due to progressive muscular rigidity in her lower limbs and trunk with superimposed muscle spasms that occurred in response to unexpected noise, startle or emotional upset. She had anxiety and specific phobias to open spaces, walking unaided and being among crowds of people. She had insulin-dependent diabetes mellitus and was on thyroxine replacement. On examination, she had hyperlordosis combined with board-like rigidity of her anterior abdomen and rigidity of her lower limbs bilaterally. Upper limbs were normal. Magnetic resonance imaging of her neuraxis was normal. Electromyography showed continuous motor unit activity at rest. Glutamic acid decarboxylase antibodies were detected in her serum at a titre of 15,500 IU/ml (normal <5). She showed a remarkable and sustained improvement to treatment with intravenous immunoglobulins, immunosuppressive and muscle relaxant medications, regaining independent ambulation.

CONCLUSIONS

Diagnosis of stiff person syndrome remains clinical, supported by electromyography and serology for glutamic acid decarboxylase antibodies, facilitated by a high index of clinical suspicion. An autoimmune basis lends stiff person syndrome amenable to treatment highlighting the importance of diagnosis. This case adds to map the worldwide distribution of stiff person syndrome.

摘要

背景

僵人综合征是一种严重致残的、进行性中枢神经系统自身免疫性疾病,其特征为肌肉僵硬和痉挛。僵人综合征较为罕见,但据信存在诊断不足的情况,在南亚17亿人口中仅报告了14例。我们报告了斯里兰卡的首例经证实病例。

病例介绍

一名55岁的斯里兰卡女性因下肢和躯干进行性肌肉僵硬以及因意外噪音、惊吓或情绪波动引发的叠加性肌肉痉挛而出现行走困难和反复跌倒。她患有焦虑症以及对空旷空间、独自行走和身处人群中的特定恐惧症。她患有胰岛素依赖型糖尿病且正在接受甲状腺素替代治疗。检查时,她有腰椎前凸增加,前腹壁呈板样僵硬,双侧下肢僵硬。上肢正常。其神经轴的磁共振成像正常。肌电图显示静息时存在持续的运动单位活动。在她的血清中检测到谷氨酸脱羧酶抗体,滴度为15,500 IU/ml(正常<5)。她经静脉注射免疫球蛋白、免疫抑制剂和肌肉松弛药物治疗后有显著且持续的改善,恢复了独立行走能力。

结论

僵人综合征的诊断仍基于临床,肌电图和谷氨酸脱羧酶抗体血清学检查可为诊断提供支持,高度的临床怀疑有助于诊断。自身免疫基础使得僵人综合征适合治疗,凸显了诊断的重要性。该病例补充了僵人综合征在全球的分布情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f4b/5070143/8c1234ef7d3c/13104_2016_2276_Fig1_HTML.jpg

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