Neuropediatrics ( IF 1.4 ) Pub Date : 2022-01-28 , DOI: 10.1055/s-0041-1742160 Mesut Güngör 1 , Evren Demirsoy 2 , Ayfer Sakarya Güneş 1 , Yonca Anık 3 , Bülent Kara 1
Congenital CD59 deficiency is an autosomal recessive disease characterized by mild-to-moderate chronic intravascular hemolysis, relapsing demyelinating peripheral neuropathies, and recurrent ischemic central nervous system strokes. We report a 2-year-old Turkish girl with a history of two episodes of Guillain-Barré syndrome-like acute weakness, reversible monocular abducens paralysis, and recurrent blistering skin lesions during periods of upper respiratory tract infections. Reversible monocular abducens palsy and recurrent blistering skin lesions have not been reported previously in cases of congenital CD59 deficiency.
中文翻译:
CD59缺乏症患者复发性水疱性皮肤损伤和可逆性单眼外展麻痹
先天性 CD59 缺乏症是一种常染色体隐性遗传病,其特征是轻度至中度慢性血管内溶血、复发性脱髓鞘周围神经病和复发性缺血性中枢神经系统中风。我们报告了一名 2 岁土耳其女孩,她在上呼吸道感染期间有两次格林-巴利综合征样急性虚弱、可逆性单眼外展肌麻痹和复发性水疱皮损的病史。在先天性 CD59 缺乏的情况下,以前没有报道过可逆性单眼外展麻痹和复发性水疱性皮肤病变。