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 high-field 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.
MeSH terms
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Adolescent
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Adult
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Brain / abnormalities*
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Brain / pathology
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Child
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Child, Preschool
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Eye Abnormalities / diagnosis*
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Eye Abnormalities / genetics
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Female
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Humans
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Male
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Middle Aged
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Muscle Hypotonia / diagnosis
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Muscle Hypotonia / genetics
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Muscular Dystrophies / diagnosis*
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Muscular Dystrophies / genetics
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Myopia / diagnosis
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Myopia / genetics
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Optic Atrophy / diagnosis
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Optic Atrophy / genetics
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Retinal Degeneration / diagnosis
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Retinal Degeneration / genetics
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Retinal Diseases / diagnosis*
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Retinal Diseases / genetics
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Syndrome
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Vision Disorders / diagnosis*
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Vision Disorders / genetics