Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
A LacalmP Gaucherand

Abstract

We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been described previously. This pattern was encountered in four index cases and allowed prenatal diagnosis of CL associated with Walker-Warburg syndrome. The pattern included both an outer echogenic band with reduced pericerebral space, corresponding to an infra- and supratentorial extracortical layer of neuroglial overmigration on pathological examination, and a 'Z'-shaped appearance of the brainstem. This pattern was found as early as 14 weeks' gestation in one of our cases.

References

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Citations

May 23, 2016·Seminars in Fetal & Neonatal Medicine·Ashley James Robinson, M Ashraf Ederies
Nov 18, 2016·Journal of Inherited Metabolic Disease·Laurent GuibaudChristine Vianey-Saban
Jan 31, 2017·The British Journal of Radiology·Fionn Williams, Paul D Griffiths
Jul 25, 2020·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Sarah W CaterSujata V Ghate
Jul 10, 2016·Journal of Inherited Metabolic Disease·Christine Vianey-SabanRoseline Froissart
Feb 2, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Adolfo EtchegarayLaura Igarzabal
Mar 20, 2018·Pediatric Radiology·Ashley J Robinson, M Ashraf Ederies
May 9, 2021·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Elka MillerThierry A G M Huisman

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