First‐trimester ultrasound diagnosis in a recurrent case of Walker–Warburg syndrome

• Published in: Ultrasound in obstetrics & gynecology 2005-09, Vol.26 (3), p.297-299
• Main Authors: Blin, G., Rabbé, A., Ansquer, Y., Meghdiche, S., Floch‐Tudal, C., Mandelbrot, L.
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - diagnostic imaging; Adult; Biological and medical sciences; Cerebral Ventricles - diagnostic imaging; Cerebral Ventricles - pathology; Dilatation, Pathologic - diagnostic imaging; Eye Abnormalities - diagnostic imaging; Fatal Outcome; Female; fetus; first trimester; Gynecology. Andrology. Obstetrics; Humans; Hydrocephalus - diagnostic imaging; Infant, Newborn; Male; Malformations of the nervous system; Medical sciences; Neurology; Pregnancy; Pregnancy Trimester, First; Syndrome; Ultrasonography, Prenatal; ultrasound; Walker–Warburg syndrome
• ISSN: 0960-7692; 1469-0705
• DOI: 10.1002/uog.1965

We report on two siblings with Walker–Warburg syndrome (WWS) born to a consanguineous couple. In the index case, the second‐trimester scan showed ventricular dilatation and we diagnosed WWS after observing retinal detachment at 26 weeks' gestation and lissencephaly by 32 weeks' gestation in addition to hypoplasia of the cerebellar vermis. The second case was first suspected at 12 weeks' gestation, when we observed a 2.8‐mm nuchal translucency and an unusually large hindbrain vesicle. By 14 weeks' gestation, the lateral ventricles were clearly enlarged (12–13 mm), at 16 weeks' gestation the vitreous chamber appeared to be hyperechogenic, and by 17 weeks' gestation hydrocephalus was evident. The couple chose to continue the pregnancy, and during the third trimester lissencephaly, major hydrocephalus and polyhydramnios developed. Serial ultrasound examination should be offered to a family with a history of WWS and therefore a 1 in 4 risk of recurrence. In some cases, recurrence can be suspected as early as the first trimester, however the diagnosis cannot be excluded on the basis of normal ultrasound appearance until later in pregnancy. Copyright © 2005 ISUOG. Published by John Wiley & Sons, Ltd.