Walker-Warburg Syndrome: Demonstration of Cerebellar Cysts with CISS Sequence

Abstract

Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by a triad of congenital muscular dystrophy, brain anomalies, and ocular abnormalities. The brain anomalies mainly include type II lissencephaly (cobblestone cortex), pontine and cerebellar hypogenesis, cerebral or cerebellar hypomyelination, cerebellar polymicrogyria with or without cysts, and variable callosal hypogenesis. Constructive interference in steady state (CISS) sequence, a heavily T(2)-weighted sequence, is ideal for demonstrating the presence of cerebellar cysts on magnetic resonance (MR) imaging. We report the complete imaging spectrum in a patient with WWS and emphasize the utility of CISS sequence in the imaging of cerebellar cysts.