Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound

Abstract

Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. A prenatal finding of hydrocephalus associated with posterior fossa anomalies and/or encephalocele is nonspecific, whereas additional ocular anomalies are typical for WWS. We report a fetus of consanguineous parents found to have encephalocele at US in week 15 of gestation. The parents did not wish to terminate the pregnancy. Follow-up US revealed bilateral abnormal ocular echoic structures suggesting a major form of persistent primary vitreous. WWS was suspected. The POMT2 mutation confirmed this diagnosis. In hydrocephalus associated with posterior fossa anomalies and/or encephalocele, we recommend detailed US examination of the fetal eyes. Ocular anomalies in this context strongly suggest WWS.