Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira 126, 1349-019, Lisbon, Portugal.
Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira 126, 1349-019, Lisbon, Portugal; CEDOC Chronic Diseases Research Centre, Nova Medical School / Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.
Clin Neurol Neurosurg. 2021 Apr;203:106591. doi: 10.1016/j.clineuro.2021.106591. Epub 2021 Mar 2.
Pregnancy among patients with congenital myasthenic syndrome (CMS) is a rare occurrence. Since most of the patients with CMS reach adulthood, questions regarding clinical outcome with pregnancy arise.
We describe a 38-year-old Portuguese female who presented in the second trimester of pregnancy with proximal fluctuating limb-girdle weakness, hyperlordosis, waddling gait, dysphagia, dysphonia and ptosis, with no ophthalmoparesis. Initial diagnosis of seronegative myasthenia, supported by neurophysiology findings, led to unsuccessful treatment with intravenous immunoglobulin, pyridostigmine, prednisolone and plasmapheresis, and the patient slowly progressed to a severe tetraparesis with facial and bulbar involvement. Genetic testing for CMS identified a novel compound heterozygous mutation (c.1124_1127dupTGCC and c.935_936del) in the DOK7 gene. Subsequent treatment with salbutamol resulted in substantial clinical benefit.
This case underlines the importance of considering the diagnosis of CMS in patients with fluctuating weakness during pregnancy. Patients of child-bearing potential diagnosed with CMS, particularly due to DOK7 mutations, should be counseled in advance and closely followed during pregnancy.
先天性肌无力综合征（CMS）患者妊娠较为罕见。由于 CMS 患者大多已成年，故妊娠相关的临床结局问题随之产生。
我们描述了一位 38 岁的葡萄牙女性，在妊娠中期出现四肢近端波动性无力、脊柱过度前凸、鸭步、吞咽困难、发音困难和上睑下垂，但无眼外肌麻痹。最初的血清阴性肌无力诊断，结合神经生理学检查结果，导致静脉注射免疫球蛋白、吡啶斯的明、泼尼松龙和血浆置换治疗失败，患者逐渐进展为严重的四肢瘫痪，伴有面肌和球部肌肉受累。CMS 的基因检测发现 DOK7 基因存在一个新的复合杂合突变（c.1124_1127dupTGCC 和 c.935_936del）。随后沙丁胺醇治疗带来了显著的临床获益。
该病例强调了在妊娠期间出现波动性无力的患者中应考虑 CMS 的诊断。对于有生育潜力的 CMS 患者，特别是由于 DOK7 突变导致的 CMS 患者，应提前进行咨询，并在妊娠期间密切随访。
