Kudo M, Tamura K, Fuse Y
Am J Clin Pathol. 1985 Oct;84(4):459-63. doi: 10.1093/ajcp/84.4.459.
The combined abnormalities of Dandy-Walker malformation, congenital hepatic fibrosis, and generalized cystic dysplastic kidneys were found in two sanguineously unrelated premature babies. This type of cerebrohepatorenal malformation is certainly unique and is generally diagnosed based on the characteristic renal lesion. Remarkably, similar renal lesions have been found in Meckel's syndrome, Goldston's syndrome, and Miranda's syndrome. The present cases can be distinguished from Meckel's syndrome on the basis of the presence of Dandy-Walker malformation and the absence of polydactyly and occipital meningoencephalocele. Although the authors' cases resemble the latter two syndromes in terms of the presence of Dandy-Walker malformation, it is tentatively considered that the distinct triads found in the present cases could represent a new variant of a multiple malformation syndrome with generalized cystic dysplastic kidneys. The etiology of these cases remains unclear, but a genetic factor, which has been suggested as for other syndromes, might be involved.
在两名无血缘关系的早产婴儿中发现了丹迪-沃克畸形、先天性肝纤维化和广泛性囊性发育异常肾的联合异常。这种类型的脑肝肾畸形肯定是独特的，通常根据特征性的肾脏病变进行诊断。值得注意的是，在梅克尔综合征、戈德斯顿综合征和米兰达综合征中也发现了类似的肾脏病变。目前的病例可根据存在丹迪-沃克畸形以及不存在多指畸形和枕部脑膜脑膨出来与梅克尔综合征相鉴别。尽管作者的病例在存在丹迪-沃克畸形方面与后两种综合征相似，但初步认为目前病例中发现的独特三联征可能代表一种伴有广泛性囊性发育异常肾的多发性畸形综合征的新变体。这些病例的病因仍不清楚，但可能涉及与其他综合征一样被认为存在的遗传因素。
