Sveinsson Olafur, Matell Henrik, Herrman Lars
Karolinska University Hospital, Stockholm, Sweden.
BMJ Case Rep. 2013 Jul 29;2013:bcr2013009763. doi: 10.1136/bcr-2013-009763.
Good's syndrome (GS) is an immunodeficiency characterised by thymoma, hypogammaglobulinemia and impaired T-cell function. The clinical symptoms are recurrent or chronic infections from common or opportunistic pathogens and diarrhoea. Encephalitis is rare, mostly associated to cytomegalovirus. We present a 65-year-old woman who developed blindness, motor deficits and cognitive changes over a 4-month period. MRI of the brain showed symmetric subcortical white matter changes in the occipital lobes, first thought to correspond to posterior reversible encephalopathy syndrome. A thymoma was found and operated. The patient had no B cells, low immunoglobulins and an inverted CD4/CD8 ratio. GS was diagnosed. In the cerbrospinal fluid >1 million JC virus copies/mL were found and a repeat MRI now showed a picture compatible with progressive multifocal leucoencephalopathy (PML). Her disease had a fatal outcome. The present case is the second reported association between GS and PML.
古德综合征(GS)是一种免疫缺陷病,其特征为胸腺瘤、低丙种球蛋白血症和T细胞功能受损。临床症状为常见或机会性病原体引起的反复或慢性感染以及腹泻。脑炎较为罕见,大多与巨细胞病毒有关。我们报告一名65岁女性,在4个月内出现失明、运动功能障碍和认知改变。脑部MRI显示枕叶对称的皮质下白质改变,最初认为符合后部可逆性脑病综合征。发现并切除了胸腺瘤。患者无B细胞,免疫球蛋白水平低,CD4/CD8比值倒置。诊断为GS。脑脊液中发现每毫升>100万份JC病毒拷贝,再次MRI显示符合进行性多灶性白质脑病(PML)的影像。她的病情导致了致命结局。本病例是第二例报道的GS与PML之间的关联。