Smit L M, Barth P G, Valk J, Njiokiktjien C
Brain Dev. 1984;6(1):54-8. doi: 10.1016/s0387-7604(84)80010-8.
We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypodensity around the lateral ventricles without ventricular widening provides preliminary evidence of a primary disease of myelination, in the absence of histopathological confirmation. This is probably the first report of "porencephaly" which shows a pattern of autosomal dominant inheritance.
我们报告了一个家族的谱系，该家族中一位母亲及其两个孩子，一个男孩和一个女孩，均患有一种相似但表现各异的脑部疾病，在CT上表现为幕上白质内与脑室系统相通的单侧或双侧空洞。侧脑室周围额外的白质低密度但脑室未增宽，在缺乏组织病理学证实的情况下，为髓鞘形成原发性疾病提供了初步证据。这可能是首例显示常染色体显性遗传模式的“孔洞脑”报告。
