Occipito-temporal polymicrogyria and subclinical muscular dystrophy

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Polymicrogyria is a cortical malformation often associated with neurological deficits.
• Certain muscular dystrophies, like Fukuyama and Walker-Warburg, can co-occur with polymicrogyria.

Observation:

• A two-year-old boy presented with neonatal seizures and bilateral occipito-temporal polymicrogyria.
• Elevated serum creatine kinase (CK) and muscle biopsy findings indicated early muscular dystrophy, despite no apparent muscle weakness.
• Genetic and protein studies excluded known forms of muscular dystrophy and merosin-deficient congenital muscular dystrophy.

Findings:

• The child exhibited mild global developmental delay but no overt muscle weakness.
• The specific pattern of brain malformation and muscle pathology did not align with established neuronal migration disorders or known polymicrogyria-associated dystrophies.
• This unique presentation suggests a potential novel association between polymicrogyria and muscular dystrophy.

Implications:

• Serum CK levels should be considered in the diagnostic workup of children with unexplained polymicrogyria, even without clinical muscle weakness.
• This case may broaden the understanding of the spectrum of muscular dystrophies and their relationship with cortical dysplasias.
• Further research is warranted to elucidate the underlying mechanisms of this combined neurological and muscular condition.