Grand M G, Kaine J, Fulling K, Atkinson J, Dowton S B, Farber M, Craver J, Rice K
Department of Ophthalmology, Washington University School of Medicine, St Louis, MO.
Ophthalmology. 1988 May;95(5):649-59. doi: 10.1016/s0161-6420(88)33131-3.
A new hereditary syndrome characterized by a frontoparietal lobe pseudotumor and retinal capillary abnormalities is described. A pedigree is presented in which characteristic ophthalmic findings have been found in ten family members and are suspected in eight additional family members spanning a total of four generations. Typical retinal findings include perifoveal capillary obliteration, peripheral focal capillary occlusion, and microvascular abnormalities, particularly involving the posterior pole. Eight patients spanning three generations had a central nervous system pseudotumor with identical histopathology. Histopathologic analysis of brain tissue shows a characteristic pattern of an unusual vasculopathy without vasculitis characterized by fibrinoid necrosis and resulting in necrosis of white matter with sparing of cortical brain tissue. The pedigree shows an apparent autosomal dominant pattern of inheritance with delayed expression of abnormalities. Of note, two patients unrelated to the pedigree having similar neuropathologic and retinal findings also have been seen at the authors' institution.
本文描述了一种以额顶叶假瘤和视网膜毛细血管异常为特征的新型遗传性综合征。文中展示了一个家系图谱，其中在四代共18名家族成员中，10人有典型的眼科表现，另外8人疑似患病。典型的视网膜表现包括黄斑周围毛细血管闭塞、周边局灶性毛细血管阻塞以及微血管异常，特别是累及后极部。三代中的8名患者患有中枢神经系统假瘤，其组织病理学表现相同。脑组织的组织病理学分析显示出一种特征性模式，即存在无血管炎的异常血管病变，其特征为纤维蛋白样坏死，导致白质坏死而皮质脑组织不受累。该家系呈现出明显的常染色体显性遗传模式，异常表现存在延迟表达。值得注意的是，作者所在机构还接诊了两名与该家系无关但有相似神经病理学和视网膜表现的患者。
