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一名患有CD59缺乏症的患者出现复发性水疱性皮肤病变和可逆性单眼外展神经麻痹

Recurrent Blistering Skin Lesions and Reversible Monocular Abducens Paralysis in a Patient with CD59 Deficiency.

作者信息

Güngör Mesut, Demirsoy Evren, Güneş Ayfer Sakarya, Anık Yonca, Kara Bülent

机构信息

Department of Pediatrics, Division of Child Neurology, Kocaeli University Medical Faculty, Kocaeli, Turkey.

Department of Dermatology, Kocaeli University Medical Faculty, Kocaeli, Turkey.

出版信息

Neuropediatrics. 2022 Apr;53(2):140-142. doi: 10.1055/s-0041-1742160. Epub 2022 Jan 28.

Abstract

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.

摘要

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。

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