Cerebro-hepato-renal syndrome: A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys

Abstract

A newly recognized hereditary disorder is described; it consists of congenital malformations of the central nervous system, liver, and kidneys. The main features are (1) severe generalized hypotonia, (2) characteristic craniofacial dysmorphia, (3) hepatomegaly, and (4) cortical renal cysts. Neuropathological examination of two infants revealed macro- and polymicrogyria and sudanophilic leukodystrophy. Other findings may include moderately low birth weight, minor skeletal anomalies, congenital heart disease, and ophthalmic, and possibly genital, anomalies. These children fail to thrive and die in infancy. Five sisters are described and compared to two similar pairs of siblings previously reported.