We report a two-year-old Caucasian boy who had neonatal
seizures and was found to have bilateral occipito-temporal
polymicrogyria on neonatal brain MRI. The child had no additional neurological abnormality other than the neonatal
seizures, but serum CK was found to be elevated (5 - 7 times normal values) and the muscle biopsy showed evidence of early
muscular dystrophy. Detailed
protein and genetic studies did not allow the identification of a known form of
muscular dystrophy. The boy has been followed regularly and he currently has mild global developmental delay but no clinical signs of muscle involvement. The association of
polymicrogyria and
muscular dystrophy is known to occur in Fukuyama and Walker Warburg
muscular dystrophies, in
muscle-eye-brain disease and in some patients with
merosin deficient CMD. However the absence of weakness and of eye involvement, the normal expression of
merosin and
alpha dystroglycan and the pattern of brain involvement make it very unlikely that the child is affected by one of these forms. As the pattern of brain involvement and the muscle pathology is not typical of one of the forms of
neuronal migration disorders secondary to a known gene defect, we suspect that the combination of muscle and brain involvement found in this child is not coincidental. Our findings suggest that serum CK should be determined in children with undiagnosed
polymicrogyria, even in the absence of weakness. This may lead to an expansion of our understanding of muscle dystrophies and
cortical dysplasias.