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Occipito-temporal polymicrogyria and subclinical muscular dystrophy
Z Zolkipli1, L Hartley, S Brown
1Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital Campus, London, UK.
Neuropediatrics
|May 31, 2003
Summary
A child with polymicrogyria and elevated creatine kinase (CK) levels presented with early muscular dystrophy signs. This case suggests routine CK testing for undiagnosed polymicrogyria may reveal new muscular dystrophy and cortical dysplasia insights.
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.