Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence.
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.
Department of Radiodiagnosis, Seth G. S. Medical College and K. E. M. Hospital, Mumbai, India.
Santosh Bharat
SB
Rathod
Akshay Dwarka
AD
Baheti
Poonam Tanaji
PT
Dabhade
Shilpa Susheel
SS
Sankhe
D020863:Central Nervous System Cysts / Q000473:pathology*; D002526:Cerebellar Diseases / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D058494:Walker-Warburg Syndrome / Q000473:pathology*