Sankhyan Naveen, Chakrabarty Biswaroop, Sharma Suvasini, Ramesh Konanki, Gulati Sheffali
Division of Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
J Child Neurol. 2011 Nov;26(11):1434-7. doi: 10.1177/0883073811410059. Epub 2011 Jul 5.
A 10-year-old girl presented with progressive proximal limb muscle weakness without facial, ocular, or bulbar muscle involvement. There was no fatigability or diurnal fluctuation in symptoms. Her weakness worsened with febrile illnesses and recovered with accruing disabilities over a few weeks. Serum creatine kinase levels and muscle biopsy were normal. A significant decrement on repetitive nerve stimulation test and positive response to therapeutic neostigmine challenge test confirmed the diagnosis of limb-girdle myasthenia. She responded well to corticosteroids and thymectomy, demonstrating a likely autoimmune etiology. This case highlights the long-term fluctuations in a case of myasthenia gravis and the need for a high index of suspicion for myasthenia in children presenting with unexplained muscle weakness, even in the absence of typical features such as fatigability, diurnal fluctuation, and oculobulbar weakness.
一名10岁女孩出现进行性近端肢体肌肉无力，无面部、眼部或延髓肌肉受累。症状无疲劳感或日间波动。她的肌无力在发热性疾病时加重，并在数周内随着残疾的累积而恢复。血清肌酸激酶水平和肌肉活检均正常。重复神经刺激试验有显著递减，且对治疗性新斯的明激发试验有阳性反应，确诊为肢带型重症肌无力。她对皮质类固醇和胸腺切除术反应良好，提示可能为自身免疫病因。该病例突出了重症肌无力病例的长期波动情况，以及对于出现不明原因肌肉无力的儿童，即使没有疲劳感、日间波动和眼咽肌无力等典型特征，也需要高度怀疑重症肌无力。
