Polymicrogyria with or Without Vascular-Type Ehlers-Danlos syndromeQ04.-

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.

1. Horn D et al. (2017) Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. Am J Med Genet 173A: 2534-2538.
2. Jeong SJ et al (2012) Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination. PLoS One 7: e29767.
3. Jorgensen A et al. (2015) Vascular Ehlers-Danlos syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family. Europ J Hum Genet 23: 796-802.
4. Liu X et al (1997) Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. Proc Nat Acad Sci 94: 1852-1856.