Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Department of Neurology, Faculty of Medicine, Hacettepe University, 06100, Ankara, Turkey.
J Neurovirol. 2017 Aug;23(4):632-636. doi: 10.1007/s13365-017-0536-x. Epub 2017 Jun 22.
We, herein, report a 23-year-old male with a rare inherited immunodeficiency disease, hyperimmunoglobulin IgE syndrome (HIES), who developed progressive multifocal leukoencephalopathy (PML) and lymphoma simultaneously. Primary immunodeficiency of the patient has remained undiagnosed until adulthood. PML is a severe demyelinating disease of the central nervous system caused by John Cunningham virus. HIES is a rare, inherited immunodeficiency characterized by high serum levels of IgE, recurrent staphylococcal infection, eczema, and hypereosinophilia. PML may accompany primary immunodeficiency syndromes, but the association with HIES is exceedingly rare. We discuss the imaging findings, medical management, and a review of related literature on primary immunodeficiency cases complicating with PML.
我们在此报告一例 23 岁男性，患有罕见的遗传性免疫缺陷病，即高免疫球蛋白 E 综合征（HIES），他同时患有进行性多灶性白质脑病（PML）和淋巴瘤。该患者的原发性免疫缺陷直到成年后才被诊断出来。PML 是一种由约翰·坎宁安病毒引起的严重中枢神经系统脱髓鞘疾病。HIES 是一种罕见的遗传性免疫缺陷病，其特征是血清 IgE 水平升高、反复发作的葡萄球菌感染、湿疹和嗜酸性粒细胞增多症。PML 可能伴随原发性免疫缺陷综合征，但与 HIES 的关联极为罕见。我们讨论了原发性免疫缺陷病例并发 PML 的影像学表现、医学管理，并回顾了相关文献。
