A case of Perlman syndrome: Fetal gigantism, renal dysplasia, and severe neurological deficits

We report on a neonate presenting with polyhydramnios; macrosomia; macrocep haly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiom egaly; thymus hyperplasia; cryptorchidism; generalized muscle hypotonia; an d a distinctive facial appearance. The clinical course was marked by severe neurodevelopmental deficits combined with progressive respiratory decompen sation leading to death at the age 6 months. Magnetic resonance imaging (MR I) disclosed a generalized cerebral atrophy with a marked deficit of the wh ite matter, Renal ultrasound and MRI showed markedly enlarged kidneys with multiple small cystic lesions, a pattern indistinguishable from polycystic kidney disease, The postmortem kidney biopsy revealed dysplastic changes, m icrocysts, and a focal nephrogenic rest, characteristic features of the Per lman syndrome. In children with fetal gigantism, renal abnormalities, and n eurological deficits, Perlman syndrome should be considered and may be conf irmed by kidney biopsy. (C) 2000 Wiley-Liss, Inc.