Department of Pediatrics, College of Medicine, King Saud University, Division of Neurophysiology, Department of Neuroscience, Armed Forces Hospital, Riyadh, Saudi Arabia.
J Neuroophthalmol. 2011 Mar;31(1):42-7. doi: 10.1097/WNO.0b013e3181f50bea.
We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic syndrome due to homozygous mutations of the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). Onset of symptoms occurred in the first few months of life with ptosis, restricted ocular motility, mild proximal weakness, and difficulty swallowing. Multiple hospital admissions were required due to recurrent pulmonary infections. There was no decremental conduction on repetitive nerve stimulation, but jitter was increased on single fiber electromyographic. Since early childhood, our patients have done well without pulmonary or bulbar symptoms and with partial improvement on pyridostigmine therapy. Response of ptosis to diagnostic ice pack test was striking. Although these siblings have a clinical history and examination findings typical of homozygous CHRNE mutations, the clinical presentation of congenital myasthenia subtypes is variable, and accurate genotyping is essential in choosing the appropriate treatment.
我们描述了一个家系中 3 位同胞兄妹的临床特征，他们均因乙酰胆碱受体 epsilon 亚单位（CHRNE）基因的纯合突变而患有先天性肌无力综合征。症状于出生后数月内出现，表现为眼睑下垂、眼球运动受限、轻度近端肌无力和吞咽困难。由于反复肺部感染，他们多次住院治疗。重复神经刺激无递减传导，但单纤维肌电图的抖动增加。自幼儿期以来，我们的患者情况良好，无肺部或球部症状，且吡啶斯的明治疗有一定程度的改善。诊断性冰袋试验对眼睑下垂的反应非常显著。尽管这些同胞具有纯合 CHRNE 突变的典型临床病史和检查结果，但先天性肌无力亚型的临床表现多种多样，因此准确的基因分型对于选择合适的治疗至关重要。
