Literature DB >> 26315758

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

A Lacalm1, B Nadaud2, M Massoud3, A Putoux4, P Gaucherand3, L Guibaud1,3.   

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.
Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  CNS; MRI; Walker-Warburg syndrome; cobblestone lissencephaly; fetal; ultrasound

Mesh:

Year:  2016        PMID: 26315758     DOI: 10.1002/uog.15735

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN: 0960-7692            Impact factor:   7.299


  5 in total

Review 1.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982

Review 2.  Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

Authors:  Laurent Guibaud; Sophie Collardeau-Frachon; Audrey Lacalm; Mona Massoud; Massimiliano Rossi; Marie Pierre Cordier; Christine Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982

3.  In utero MR imaging in fetuses at high risk of lissencephaly.

Authors:  Fionn Williams; Paul D Griffiths
Journal:  Br J Radiol       Date:  2017-03-03       Impact factor: 3.039

Review 4.  Fetal neuroimaging: an update on technical advances and clinical findings.

Authors:  Ashley J Robinson; M Ashraf Ederies
Journal:  Pediatr Radiol       Date:  2018-03-17

5.  Perioperative total intravenous anesthesia in a child with Walker-Warburg syndrome: A case report.

Authors:  Wadeeah Bahaziq; Ahmed R Hassan; Majd Y Jubili; Abdulaziz Boker
Journal:  Saudi J Anaesth       Date:  2022-03-17
  5 in total

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