Affiliations: Department of Radiology, Lahey Clinic and Tufts University School Of Medicine, Burlington, MA, USA | Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA | Department of Neuroradiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
Note: [] Corresponding author: Juan E. Small, Lahey Clinic, 41 Mall Road, Burlington, MA 01805, USA. Tel.: +1 781 744 8171; Fax: +1 781 744 5232; E-mail: [email protected].
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.