儿童眼肌型重症肌无力误诊一例

Misdiagnosis of Ocular Myasthenia Gravis in a Child: A Case Report

摘要: 一例8岁患儿，因“发现右侧歪头视物半年”就诊，曾被诊断为先天性眼肌麻痹，并接受两次眼肌手术。术后症状复发，后因发现症状存在“晨轻暮重”的波动特点，经冰敷试验及乙酰胆碱受体抗体检测，最终确诊为眼肌型重症肌无力。本病例提示，对不明原因眼睑下垂及斜视的患儿，即使合并其他先天异常，亦需警惕本病可能，及时行相关检查以避免不必要的手术干预。

Abstract: An 8-year-old patient presented with the chief complaint of “head tilt and abnormal visual posture on the right side for six months.” The patient had previously been diagnosed with congenital ophthalmoplegia and had undergone two strabismus surgeries. Following the procedures, the symptoms recurred. Subsequently, the observation of a characteristic diurnal fluctuation pattern, described as “milder in the morning and worsening in the evening,” prompted further investigation. A diagnosis of ocular myasthenia gravis was ultimately confirmed based on a positive ice pack test and the detection of acetylcholine receptor antibodies. This case highlights the importance of considering ocular myasthenia gravis in the differential diagnosis for children presenting with unexplained ptosis and strabismus, even in the presence of other congenital anomalies. Timely and appropriate diagnostic testing is crucial to avoid unnecessary surgical interventions.