Abstract
Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy. Their features overlap, and differential diagnosis presents some difficulties. We examined the brain of 10 patients with MEB using highfield MRI and found a uniform pattern consisting of a pachygyria-type cortical migration disorder, septal and corpus callosum defects and severe hypoplasia of the pons in 7 of them.
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Valanne, L., Pihko, H., Katevuo, K. et al. MRI of the brain in muscle-eye-brain (MEB) disease. Neuroradiology 36, 473–476 (1994). https://doi.org/10.1007/BF00593687
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DOI: https://doi.org/10.1007/BF00593687