Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, WC1N 3JH, UK.
Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, UK.
Eye (Lond). 2023 Mar;37(4):700-704. doi: 10.1038/s41433-022-02030-5. Epub 2022 Mar 25.
To report the demographics and ocular features of myasthenia gravis in the paediatric population.
Retrospective revision of the medical records of all patients younger than 18 years of age with myasthenia who were examined at Great Ormond Street Hospital between the 1st of January 2016 and 1st of January 2020.
A total of 49 children were assessed during the 4-year period. There was a female predominance, with only 12 males (24.5%). 26 children (53.1%) had juvenile myasthenia gravis (JMG) while 18 (36.7%) had congenital myasthenic syndrome (CMS). 4 patients (8.2%) were diagnosed with probable CMS while 1 (2.0%) was classified as probable JMG. The mean age at diagnosis was 5.3 years old (SD 3.9) whereas the mean age at onset was 3.7 years old (SD 3.9). Almost half of the children (49%) had ocular involvement, present in 19 patients in the JMG group (70.4%) and in 5 children (22.7%) in the CMS cohort. Ptosis was the most common sign at presentation, seen in 32 patients (65.3%). Nine patients (18.4%) presented with a squint and another 7 (14.3%) developed it later on. Anti-acetylcholine receptor antibodies were positive in 18 of the 26 JMG patients (69.2%) whereas identifiable mutations were found in the 18 CMS patients (100%). Pyridostigmine was the drug of choice in our series, used by thirty-three patients (67.3%). The majority of the patients (73.5%) improved after treatment.
JMG was the most common type of paediatric MG, specifically the ocular form. Ptosis was the most common sign at presentation. The majority of the patients improved after medical treatment.
报告儿科重症肌无力患者的人口统计学和眼部特征。
回顾性审查 2016 年 1 月 1 日至 2020 年 1 月 1 日期间在大奥蒙德街医院就诊的所有年龄小于 18 岁的重症肌无力患者的病历。
在 4 年期间共评估了 49 名儿童。存在女性优势，仅有 12 名男性（24.5%）。26 名儿童（53.1%）患有青少年型重症肌无力（JMG），18 名（36.7%）患有先天性肌无力综合征（CMS）。4 名患者（8.2%）被诊断为可能的 CMS，1 名（2.0%）被归类为可能的 JMG。诊断时的平均年龄为 5.3 岁（标准差 3.9），而发病时的平均年龄为 3.7 岁（标准差 3.9）。将近一半的儿童（49%）有眼部受累，在 JMG 组的 19 名患者（70.4%）和 CMS 组的 5 名患者（22.7%）中存在。上睑下垂是最常见的首发症状，在 32 名患者（65.3%）中可见。9 名患者（18.4%）出现斜视，另有 7 名患者（14.3%）后来出现斜视。18 名 JMG 患者中的 18 名（69.2%）抗乙酰胆碱受体抗体阳性，18 名 CMS 患者（100%）发现了可识别的突变。在我们的系列中，吡啶斯的明是首选药物，33 名患者（67.3%）使用。大多数患者（73.5%）经治疗后改善。
JMG 是儿科重症肌无力最常见的类型，特别是眼型。上睑下垂是最常见的首发症状。大多数患者经药物治疗后改善。
