Fukuyama congenital muscular dystrophy

Case contributed by Dr Shirish Paul


Developmental delay and hypotonia since birth.

Patient Data

Age: 2 years
Gender: Female

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. 

Disorganized 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.

Case Discussion

Fukuyama congenital muscular dystrophy is a congenital muscular dystrophy that 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 cortex 1.

On brain MR examinations, all patients show polymicrogyria and approximately half of patients show pachygyria. These two types of cortical dysplasias are present in characteristic distributions: the former demonstrates frontal lobe involvement in all and parietotemporal 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.

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Case information

rID: 50482
Published: 31st Jan 2017
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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