Roos R A, Maaswinkel-Mooy P D, vd Loo E M, Kanhai H H
Department of Neurology, University Hospital, Leiden, The Netherlands.
Eur J Pediatr. 1987 Sep;146(5):532-6. doi: 10.1007/BF00441612.
Two boys are described with congenital microcephaly, infantile spasms, psychomotor retardation and an early-onset nephrotic syndrome. The autopsy findings of one patient are described in detail. Polymicrogyria was the most prominent feature and the kidneys showed focal segmental glomerulosclerosis. These findings have been described as a clinical entity, the leading symptoms being congenital microcephaly, early-onset nephrotic syndrome and mental retardation, accompanied by various other clinical symptoms. A review of the literature suggests an autosomal recessive mode of inheritance.
本文描述了两名患有先天性小头畸形、婴儿痉挛症、精神运动发育迟缓以及早发性肾病综合征的男孩。详细介绍了其中一名患者的尸检结果。多小脑回是最显著的特征，肾脏表现为局灶节段性肾小球硬化。这些发现被描述为一种临床实体，主要症状为先天性小头畸形、早发性肾病综合征和智力发育迟缓，并伴有各种其他临床症状。文献综述提示其遗传方式为常染色体隐性遗传。
