AlHabsi Raiya
Pediatrics, Ibra Hospital, Ibra, OMN.
Cureus. 2025 Jan 3;17(1):e76886. doi: 10.7759/cureus.76886. eCollection 2025 Jan.
Congenital myasthenia syndrome (CMS) is an inherited disorder that involves muscle weakness and fatigue. It can present at birth or late childhood and has variable presentations and severity. It consists of a heterogeneous group of disorders characterized by defective neuromuscular junction (NMJ) transmission. Muscle weakness is common in patients with CMS, but other clinical presentations depend on the genetic defect. CMS is associated with mutations of genes at NMJ, involving the acetylcholine receptors (AChR) subunits. Here, we present the case of a 14-month-old child who presented with refractory seizures and respiratory depression requiring prolonged ventilation and tracheostomy. His whole exome sequencing (WES) showed a variant in the homozygous state in the CHAT gene. Pathogenic variants in this gene are associated with autosomal recessive presynaptic congenital myasthenic syndrome type 6. He did not have any family history of myasthenia gravis and showed marked improvement after starting pyridostigmine despite being started late. This case report has been accepted for poster presentation at the Oman Genetic Society for Genetic Medicine Scientific Research Day, which was held on the 5 of December 2024.
先天性肌无力综合征（CMS）是一种遗传性疾病，会导致肌肉无力和疲劳。它可在出生时或儿童晚期出现，表现形式和严重程度各不相同。它由一组异质性疾病组成，其特征是神经肌肉接头（NMJ）传递缺陷。肌无力在CMS患者中很常见，但其他临床表现取决于基因缺陷。CMS与NMJ处的基因突变有关，涉及乙酰胆碱受体（AChR）亚基。在此，我们报告一例14个月大的儿童，该患儿出现难治性癫痫发作和呼吸抑制，需要长时间通气和气管切开术。他的全外显子组测序（WES）显示CHAT基因处于纯合状态的一个变异。该基因的致病变异与常染色体隐性遗传的6型突触前先天性肌无力综合征相关。他没有重症肌无力的家族史，尽管开始使用吡啶斯的明较晚，但开始用药后病情有明显改善。本病例报告已被接受在2024年12月5日举行的阿曼遗传学会遗传医学科研日以海报形式展示。
