Pediatric Neurology, Hospital Italiano, Gascon 450. Capital Federal, Buenos Aires, 4959-0200, Argentina.
Department of Neurology, University of California Davis, 1515 Newton Court, Davis, CA, 95618, USA.
BMC Med Genomics. 2024 Aug 12;17(1):207. doi: 10.1186/s12920-024-01977-6.
Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is the association with life-threatening episodes of apnea. One of these variants is caused by mutations in the SLC5A7 gene, which encodes the sodium-dependent HC-3 high-affinity choline transporter 1 (CHT1). To our knowledge there are no published cases of this CMS type in Latin America.
We present two cases of CHT1-CMS. Both patients were males presenting with repeated episodes of apnea, hypotonia, weakness, ptosis, mild ophthalmoparesis, and bulbar deficit. The first case also presented one isolated seizure, while the second case showed global developmental delay. Both cases, exhibited incomplete improvement with treatment with pyridostigmine.
This report emphasizes the broad incidence of CMS with episodic apnea caused by mutations in the SLC5A7 gene and the frequent association of this condition with serious manifestations of central nervous system involvement.
先天性肌无力综合征（CMS）是罕见的遗传性疾病，由于神经肌肉传递失败，它们都有肌肉疲劳的共同特征。由乙酰胆碱合成缺陷引起的突触前 CMS 变体的一个独特临床特征是与危及生命的呼吸暂停发作有关。这些变体之一是由 SLC5A7 基因的突变引起的，该基因编码钠离子依赖性 HC-3 高亲和力胆碱转运蛋白 1（CHT1）。据我们所知，在拉丁美洲尚无此类 CMS 类型的已发表病例。
我们介绍了两例 CHT1-CMS 患者。两名男性患者均反复出现呼吸暂停、低张力、无力、眼睑下垂、轻度眼肌麻痹和延髓缺陷。首例患者还出现了一次孤立性癫痫发作，而第二例患者则表现为全面发育迟缓。两例患者均对吡啶斯的明治疗反应不完全。
本报告强调了由 SLC5A7 基因突变引起的伴有发作性呼吸暂停的 CMS 的广泛发病率，以及这种情况与中枢神经系统严重受累的常见关联。
