Erschienen in:
01.04.2012 | Case Report
Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound
verfasst von:
M. Brasseur-Daudruy, P. H. Vivier, V. Ickowicz, D. Eurin, E. Verspyck
Erschienen in:
Pediatric Radiology
|
Ausgabe 4/2012
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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.