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Cranial MR images reveal abnormal increased long TR hyperintensity in the periventricular white matter of bilateral frontal lobes.The frontal lobes have shallow sulci, a bizarre pattern of sulci parallel to each other with slightly thickened cortices and bumpy grey-white matter interfaces(pachygyria pattern).
There are numerous small gyri in temporoparietal lobes(polygyria pattern).
Corpus callosum has a bizarre configuration, though not hypoplastic. There is marked pontine, inferior vermian hypoplasia and colliculi fusion.
Disorganised cerebellar folia with multiple subcentimeter cysts are seen in posterior and inferior cerebellar hemispheres.
In view of cortical dysplasia with characteristic distribution, cerebellar abnormalities, preserved general configuration of the brain, a probable diagnosis of Fukuyama Congenital Muscular Dystrophy is considered.