Prud'homme L, Gitiaux C, Barnerias C, Orssaud C, Bremond-Gignac D, Robert M P
Département d'ophtalmologie 2, hôpital national d'ophtalmologie des Quinze-Vingts, Paris, France; Service d'ophtalmologie, Paris-Cité University, hôpital universitaire Necker-Enfants-Malades, AP-HP, Paris, France.
Département de neurologie pédiatrique et de neurophysiologie pédiatrique, hôpital Necker-Enfants-Malades, Paris, France; Centre de référence pour les maladies neuromusculaires « Garches-Necker-Mondor-Hendaye », Créteil, France; Département génétique et développement, institut Cochin, université Paris-Descartes, Paris, France.
J Fr Ophtalmol. 2024 Sep;47(7):104202. doi: 10.1016/j.jfo.2024.104202. Epub 2024 May 8.
Myasthenia is a rare disease in children, with an estimated incidence of 1 to 5 per million children. However, the potential severity of its consequences and the existence of specific treatments require prompt diagnosis by pediatric ophthalmologists.
Retrospective review of patient records. Patients were identified from a rare disease database. Patients under the age of 18 years with confirmed diagnosis of myasthenia and ocular symptoms seen in a specialized clinic between 2005 and 2021 were included.
Twenty-six (16 girls) with confirmed myasthenia and ocular symptoms were included. Ten patients had definite autoimmune myasthenia gravis (AIMG); 6 had suspected AIMG with negative antibody testing. Six patients had definite congenital myasthenic syndrome (CMS); 4 had suspected CMS with no evidence of mutation. Mean age at diagnosis of myasthenia was 5 years-3 years and 5 months for CMS and 6 years and 3 months for AIMG. Male to female (M:F) ratio was 6/10 for autoimmune myasthenia gravis and 4/6 for CMS. Ptosis was present in all cases; strabismus in 21 patients (68%). The clinical forms of myasthenia were ocular myasthenia in 12 patients (10 AIMG and 2 CMS), generalized in 12 patients (7 CMS and 5 AIMG) and secondary generalization of ocular myasthenia in 2 patients (2 AIMG).
These results are based on only 26 cases, which can be explained by the rarity of this diagnosis in children. As in adults, the first signs are often ophthalmologic - ptosis alone or associated with strabismus. Diagnosis is difficult because of the absence of clinical signs, laboratory tests or electrophysiological signs with high sensitivity. Thus, the work-up may remain completely negative in secondarily proven forms. In addition, electroneuromyograms and oculomotor recordings in small children are more difficult to perform than in adults. For these reasons, the clinical examination is essential. In the case of strong suspicion, all additional medical examinations are carried out in a day unit, in order to reach a positive diagnosis of myasthenia. The so-called "congenital" forms, which are genetic, are proportionately higher than in adults, and diagnosis and treatment are often more difficult than in the classic autoimmune forms.
Myasthenia can affect children from a very young age and can present as ptosis, initially isolated or associated with strabismus. Diagnosis and treatment may be difficult and should be organized in specialized centers.
重症肌无力在儿童中是一种罕见疾病，估计发病率为每百万儿童1至5例。然而，其后果的潜在严重性以及特定治疗方法的存在要求儿科眼科医生进行及时诊断。
对患者记录进行回顾性研究。从一个罕见病数据库中识别患者。纳入2005年至2021年期间在一家专科诊所确诊为重症肌无力且有眼部症状的18岁以下患者。
纳入26例确诊为重症肌无力且有眼部症状的患者（16名女孩）。10例患者患有明确的自身免疫性重症肌无力（AIMG）；6例抗体检测阴性但疑似AIMG。6例患者患有明确的先天性肌无力综合征（CMS）；4例疑似CMS但无突变证据。重症肌无力的平均诊断年龄为5岁——CMS为3岁5个月，AIMG为6岁3个月。自身免疫性重症肌无力的男女比例为6/10，CMS为4/6。所有病例均有上睑下垂；21例患者（68%）有斜视。重症肌无力的临床类型为眼肌型重症肌无力12例（10例AIMG和2例CMS），全身型12例（7例CMS和5例AIMG），以及2例患者（2例AIMG）眼肌型重症肌无力继发全身型。
这些结果仅基于26例病例，这可以用该诊断在儿童中的罕见性来解释。与成人一样，最初的症状通常是眼科方面的——单独的上睑下垂或伴有斜视。由于缺乏高敏感性的临床体征、实验室检查或电生理体征，诊断很困难。因此，在继发性确诊的病例中，检查结果可能完全为阴性。此外，幼儿的神经肌电图和动眼神经记录比成人更难进行。出于这些原因，临床检查至关重要。在高度怀疑的情况下，所有额外的医学检查都在日间病房进行，以便对重症肌无力做出肯定诊断。所谓的“先天性”类型，即遗传性类型，在儿童中所占比例高于成人，其诊断和治疗通常比经典的自身免疫性类型更困难。
重症肌无力可在儿童很小的时候就出现，可表现为上睑下垂，最初单独出现或伴有斜视。诊断和治疗可能很困难，应在专科中心进行安排。
