Fukuyama congenital muscular dystrophy

Fukuyama congenital muscular dystrophy (FCMD) isis a congenital muscular dystrophy whichthat is autosomal recessive in inheritance, considered to be the second most common muscular dystrophy in Japan.¹.

The most common and characteristic changes in the central nervous system are brain malformations, which include polymicrogyria, pachygyria and agyria of the cerebrum and cerebellum (cobblestone cortex) lacking neuronal lamination of the normal six-layered cortex¹.

InOn brain MR examinationexaminations, all patients show polymicrogyria and approximately half theof patients show pachygyria. These two types of cortical dysplasias are present in characteristic distributions: the former demonstrates frontal lobe involvement in all and Parietotemporalparietotemporal lobe involvement in some, whereas the latter involves the temporooccipital lobes. 

Traditionally, the diagnosis is based on pathologic evidence of muscular dystrophy in the biopsy specimen obtained in the appropriate clinical context.

Cranial MR images reveal abnormal increased long TR hyperintensity in the periventricular white matter of bilateral frontal lobes.The. 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  Dystrophycongenital muscular dystrophy is considered.