肌肉特异性激酶自身免疫性重症肌无力：1例儿科病例报告及文献综述
Muscle-Specific Kinase Autoimmune Myasthenia Gravis: Report of a Pediatric Case and Literature Review.
作者信息
Ben Younes Thouraya, Benrhouma Hanene, Klaa Hedia, Ben Aoun Rania, Rouissi Aida, Ben Ahmed Melika, Kraoua Ichraf, Ben Youssef-Turki Ilhem
机构信息
Research Unit UR12 SP24, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
Faculté de Médecine de Tunis, Université de Tunis El Manar, Tunis, Tunisia.
出版信息
Neuropediatrics. 2019 Apr;50(2):116-121. doi: 10.1055/s-0038-1676514. Epub 2018 Dec 21.
Myasthenia gravis (MG) with antibodies to the muscle-specific tyrosine kinase (MuSK-MG) receptor is a rare entity. It represents 5 to 8% of all MG patients. Few pediatric cases were reported. Clinical presentation is often atypical. It is characterized by predominant involvement of cranial, bulbar, and axial muscles and early respiratory crises. Myokymia and fasciculation are suggestive of MuSK-MG. The clinical course of patients with MuSK-MG is worse than other types of MG. Responses to standard therapies are variable. We report clinical, neurophysiological, serological, and outcome profile of a Tunisian child with MuSK-MG.
伴有针对肌肉特异性酪氨酸激酶（MuSK-MG）受体抗体的重症肌无力（MG）是一种罕见疾病。它占所有MG患者的5%至8%。儿科病例报道较少。临床表现通常不典型。其特征为主要累及颅神经、延髓和躯干肌肉，并早期出现呼吸危机。肌束震颤和肌束颤动提示MuSK-MG。MuSK-MG患者的临床病程比其他类型的MG更差。对标准疗法的反应各不相同。我们报告了一名突尼斯MuSK-MG患儿的临床、神经生理学、血清学及预后情况。
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