Congenital muscular dystrophies - cerebral manifestations

Case contributed by Dalia Ibrahim


Delayed milestones and hypotonia

Patient Data

Age: 4 years
Gender: Male

 Both cerebral hemispheres show the following:

  • bilateral frontal polymicrogyria
  • bilateral occipital cobblestone lissencephaly
  • diffuse white matter increased signal, impressive of dysmyelination.
  • marked ventriculomegaly
  • diffusely thinned corpus callosum

The posterior fossa shows:

  • Z-shaped/kinked brainstem.
  • hypoplastic pons with central ventral notching
  • both cerebellar hemispheres appear small and dysplastic showing tiny cysts and abnormal cerebellar foliation

Case Discussion

The combined clinical features of hypotonia since birth, delayed motor development and the classic radiological features in this case were typical for congenital muscular dystrophy, which was confirmed on muscle biopsy. 

Radiographic features

Described features in general include:


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