Departments of Pediatric Neurology, Dokuz Eylul University Faculty of Medicine, İzmir, Turkey.
Departments of Ophthalmology, Dokuz Eylul University Faculty of Medicine, İzmir, Turkey.
Turk J Pediatr. 2022;64(4):787-794. doi: 10.24953/turkjped.2021.1405.
CD59 is the principal cell inhibitor of complement membrane attack on cells. Stroke, peripheral neuropathy, and recurrent central nervous system attacks have been reported in patients with inherited CD59 deficiency. In this paper, we report a patient with CD59 deficiency associated with two attacks of demyelinating peripheral neuropathy and the third attack as an isolated optic neuritis.
An 8-month-old girl whose sibling died at 12th month of age with recurrent weakness episodes responsive to intravenous immune globulin treatment, presented with weakness in legs and poor sucking. Weakness episodes with neurogenic electromyography suggested CD59 deficiency. Immunophenotypic analysis with flow cytometry showed CD59 deficiency. Sanger sequencing of CD59 gene revealed a homozygous c146delA (p.Asp49Valfs*32) mutation. First two attacks were treated with intravenous immunoglobulin therapy without any sequalae. Third attack was an isolated optic neuritis which could not be explained by any other entity. The patient had no response to intravenous immunoglobulin but benefited from pulse steroid therapy. Eculizumab was started every two weeks in order to prevent possible advanced attacks and to reduce their severity.
Although it is a rarely reported disease, better recognition of CD59 deficiency by pediatric neurologists is necessary because it is curable. In addition to different presentations reported, optic neuritis may also be a manifestation of CD59 deficiency.
CD59 是细胞补体膜攻击复合物的主要细胞抑制剂。遗传性 CD59 缺乏症患者可发生中风、周围神经病和复发性中枢神经系统攻击。本文报道了一例 CD59 缺乏症患者，该患者发生了两次脱髓鞘性周围神经病发作，第三次发作表现为孤立性视神经炎。
一名 8 月龄女婴，其同胞于 12 月龄时死亡，死于复发性肌无力发作，对静脉注射免疫球蛋白治疗有反应，表现为腿部无力和吸吮无力。神经源性肌电图提示 CD59 缺乏症。流式细胞术免疫表型分析显示 CD59 缺乏症。CD59 基因的 Sanger 测序显示纯合 c146delA(p.Asp49Valfs*32)突变。前两次发作采用静脉注射免疫球蛋白治疗，无后遗症。第三次发作是孤立性视神经炎，不能用其他任何实体来解释。该患者对静脉注射免疫球蛋白无反应，但对脉冲类固醇治疗有效。为了预防可能的进一步发作并减轻其严重程度，每隔两周开始使用依库珠单抗治疗。
尽管这是一种罕见报道的疾病，但儿科神经科医生需要更好地认识 CD59 缺乏症，因为它是可治愈的。除了报告的不同表现外，视神经炎也可能是 CD59 缺乏症的表现。
