Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congeni
tal syndromes with migration disorders of the brain and muscular dystr
ophy, along with the Walker-Warburg syndrome and Fukuyama congenital m
uscular dystrophy. Their features overlap, and differential diagnosis
presents some difficulties. We examined the brain of 10 patients with
MEB using high-field MRI and found a uniform pattern consisting of a p
achygyria-type cortical migration disorder, septal and corpus callosum
defects and severe hypoplasia of the pons in 7 of them.