Polymicrogyria with or Without Vascular-Type Ehlers-Danlos syndrome Q04.-

Polymicrogyria with or without vascular Ehlers-Danlos syndrome is an autosomal recessive inherited disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain abnormalities on imaging (cerebral cortex with many excessively small convolutions), only some show developmental delay and/or seizures.

The condition may occur in isolation or be a clinical feature of many genetic syndromes, so . in combination with vascular Ehlers-Danlos syndrome, some patients have connective tissue defects that particularly affect the vasculature and may lead to early death. The malformation may also occur in association with perinatal cytomegalovirus infection.

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