Diagnosis of cobblestone lissencephaly and associated Chiari malformation using fetal MRI

David M. Ferrone; Brian M. Corliss; Matija Snuderl; Juan E. Small

doi:10.3233/PNR-13059

Journal of Pediatric Neuroradiology, Table of Contents

Journal of Pediatric Neuroradiology 2013; 02(02): 157-161
DOI: 10.3233/PNR-13059

Case Report

Georg Thieme Verlag KG Stuttgart – New York

Diagnosis of cobblestone lissencephaly and associated Chiari malformation using fetal MRI

Authors

David M. Ferrone

^aDepartment of Radiology, Lahey Clinic and Tufts University School Of Medicine, Burlington, MA, USA
Brian M. Corliss

^aDepartment of Radiology, Lahey Clinic and Tufts University School Of Medicine, Burlington, MA, USA
Matija Snuderl

^bDepartment of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
Juan E. Small

^aDepartment of Radiology, Lahey Clinic and Tufts University School Of Medicine, Burlington, MA, USA

^cDepartment of Neuroradiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA

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Abstract

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Abstract

Walker-Warburg Syndrome (WWS) is a rare and severe form of autosomal recessive congenital muscular dystrophy affecting the brain, eyes, and muscles. We report a case of an infant diagnosed with cobblestone lissencephaly as well as a Chiari malformation, consistent with likely WWS based on fetal anomalies noted on prenatal ultrasound and confirmed with magnetic resonance imaging (MRI) at 35 week. Although multiple posterior fossa abnormalities have been reported in the setting of WWS, to our knowledge, the co-existence of a Chiari malformation has never before been reported. We describe the fetal MRI and pathological findings of WWS and discuss the role of MRI as an antenatal imaging tool.

Keywords

Walker-Warburg Syndrome - congenital muscular dystrophy - lissencephaly

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