伴有小头畸形的COLQ突变型先天性肌无力综合征：1例独特病例及文献复习
COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review.
作者信息
Al-Muhaizea Mohammad A, Al-Mobarak Sulaiman Bazee
机构信息
King Saud University, Riyadh, Saudi Arabia.
出版信息
Transl Neurosci. 2017 Jul 20;8:65-69. doi: 10.1515/tnsci-2017-0011. eCollection 2017.
Abstract
Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically not part of the CMS. We report here a Saudi girl with genetically proven Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) mutation type CMS who has global developmental delay, microcephaly and respiratory failure. We have reviewed the literature regarding COLQ-type CMS and to the best of our knowledge this is the first ever reported association of congenital myasthenia syndrome with microcephaly.
摘要
先天性肌无力综合征（CMS）是一组由多个基因缺陷引起的遗传性神经肌肉接头疾病。临床特征包括运动发育迟缓、反复呼吸道疾病和可变的易疲劳性肌无力。中枢神经系统受累通常不是CMS的一部分。我们在此报告一名沙特女孩，她经基因证实患有不对称乙酰胆碱酯酶胶原样尾亚基（COLQ）突变型CMS，伴有全面发育迟缓、小头畸形和呼吸衰竭。我们回顾了关于COLQ型CMS的文献，据我们所知，这是首次报道先天性肌无力综合征与小头畸形的关联。
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