Division of Paediatric Neurology, Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia.
Department of Paediatrics, Penang General Hospital, Penang, Malaysia.
J Clin Neurosci. 2020 Feb;72:468-471. doi: 10.1016/j.jocn.2019.12.007. Epub 2019 Dec 10.
Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia gravis (MG). We describe 2 children from unrelated families who presented with hypotonia, ptosis and fatigability in early infancy with anti-AChR antibodies detected via ELISA on 2 separate occasions in the sera. Both were treated as refractory autoimmune MG due to poor clinical response to acetylcholinesterase inhibitor and immunotherapy. In view of the atypical clinical features, genetic studies of CMS were performed and both were confirmed to have novel pathogenic mutations in the COLQ gene. To the best of our knowledge, the presence of anti-AChR antibody in COLQ-related CMS has never been reported in the literature. The clinical presentation of early onset phenotype, and refractoriness to acetylcholinesterase inhibitor and immunotherapy should prompt CMS as a differential diagnosis.
先天性肌无力综合征（CMS）是一组异质性遗传性疾病，不与抗乙酰胆碱受体（AChR）抗体相关。AChR 自身抗体的存在具有致病性，并且对自身免疫性重症肌无力（MG）具有高度敏感性和特异性。我们描述了 2 名来自无关家庭的儿童，他们在婴儿早期表现出肌无力、眼睑下垂和易疲劳，通过 ELISA 在血清中两次检测到抗 AChR 抗体。由于对乙酰胆碱酯酶抑制剂和免疫治疗的临床反应不佳，他们都被诊断为难治性自身免疫性 MG。鉴于不典型的临床特征，对 CMS 的基因研究进行了，结果证实他们都在 COLQ 基因中存在新的致病性突变。据我们所知，COLQ 相关 CMS 中存在抗 AChR 抗体在文献中从未有过报道。早期发病表型的临床表现以及对乙酰胆碱酯酶抑制剂和免疫治疗的耐药性应促使 CMS 作为鉴别诊断。
