Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities.
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Clinical presentation
There is severe intellectual disability, in combination with seizures. Motor development is usually severely delayed. Eye abnormalities include choroidal hypoplasia, retinal degeneration, optic nerve hypoplasia, severe myopia and glaucoma.
Pathology
Etiology
Muscle-eye-brain disease is caused by a fault in O-mannosyl glycan synthesis.
Genetics
It is an inherited autosomal recessive disease with marked phenotypic variability. The founder mutation is in the Finnish population (POMGNT1 mutations are most common).
Radiographic features
MRI
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cerebral hemispheres
diffuse cerebral cortical dysplasias: cobblestone lissencephaly, pachygyria, polymicrogyria or agyria +/- cysts
high T2 signal cerebral white matter signal reflecting patchy hypomyelination
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midline structures
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infratentorial structures
cerebellar polymicrogyria +/- multiple subcortical cerebellar cysts
cerebellar vermian and pontine hypoplasia
malformed tectal plate, fused midbrain superior and inferior colliculi
Treatment and prognosis
No curative treatment is available. Management is supportive.
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