PRENATAL-DIAGNOSIS OF WALKER-WARBURG-SYNDROME IN 3 SIBS

Walker-Warburg syndrome (WWS) is an autosomal recessive condition char acterized by diffuse neurodysplasia, resulting in brain and eye abnorm alities. We report on 3 prenatally diagnosed cases of this syndrome bo rn to a consanguineous couple. An ultrasonographic examination showed hydrocephalus at the 27th week of the first pregnancy. Amniocentesis d ocumented a normal male karyotype. The couple opted for termination of the pregnancy but declined an autopsy. Seven months later, hydrocepha lus was observed at 20 weeks of the second pregnancy. Termination of p regnancy was performed at the 22nd week. Autopsy of this male fetus sh owed dilated ventricles, thin cortex, and type II lissencephaly with m icroscopic evidence of chaotic architecture. Eye examination showed re tinal dysplasia. Notwithstanding the lack of demonstrable muscle chang e, the diagnosis of Walker-Warburg syndrome was made. Ten months later , hydrocephalus was discovered in the third fetus, a female, at 13 wee ks of gestation. Termination of pregnancy was performed at 20 weeks. A t autopsy, brain, eye, and muscular findings were similar to those of the previous case. In addition, cystic changes and a stenosis of the p yelo-ureteral junction were found in the right kidney. Type II lissenc ephaly and retinal dysplasia are characteristic of WWS. Muscular dystr ophy has been pointed out as an additional abnormality in postnatal ca ses. By contrast, the lack of demonstrable muscle changes in the fetal period must be emphasized. Those cases illustrate practical problems in the ultrasound and pathologic diagnosis of WWS in the fetal period. (C) 1998 Wiley-Liss, Inc.