Walker-Warburg syndrome combines congenital hydrocephalus, eye abnormalities including retinal dysplasia, neuronal migration disorder expressed by cobblestone lissencephaly, and congenital muscular dystrophy. Manifestations at birth include generalized hypotonia and severe generalized paresis, macrocephaly, and eye abnormalities including anterior and posterior chamber abnormalities. A third of patients develop seizures during infancy or early childhood. Findings in the brain include cerebellar cortical dysplasia with apparently fused cerebellar folia and diminution in size of the ventral pons.
Nov. 11, 2020