Güngör Mesut, Demirsoy Evren, Güneş Ayfer Sakarya, Anık Yonca, Kara Bülent
Department of Pediatrics, Division of Child Neurology, Kocaeli University Medical Faculty, Kocaeli, Turkey.
Department of Dermatology, Kocaeli University Medical Faculty, Kocaeli, Turkey.
Neuropediatrics. 2022 Apr;53(2):140-142. doi: 10.1055/s-0041-1742160. Epub 2022 Jan 28.
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.
先天性CD59缺乏症是一种常染色体隐性疾病,其特征为轻至中度慢性血管内溶血、复发性脱髓鞘性周围神经病以及复发性缺血性中枢神经系统中风。我们报告了一名2岁的土耳其女孩,她有两次吉兰-巴雷综合征样急性肌无力发作史、可逆性单眼外展麻痹,以及在上呼吸道感染期间出现复发性皮肤水疱病变。此前先天性CD59缺乏症病例中尚未报道过可逆性单眼外展麻痹和复发性皮肤水疱病变。