PMG

polymicrogyria(English)

  • one of the most common malformations of cortical development, characterized by overfolding of the cerebral cortex and abnormal cortical layering. A highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. It may occur as an isolated cortical malformation, or in association with other malformations within the brain or body as part of a multiple congenital anomaly syndrome. Shows variable topographic patterns with the bilateral perisylvian pattern being most common. Schizencephaly is a subtype in which the overfolded cortex lines full-thickness clefts connecting the subarachnoid space with the cerebral ventricles. Both genetic and non-genetic causes have been identified. Non-genetic causes include congenital cytomegalovirus infection and in utero ischemia. Genetic causes include metabolic conditions such as peroxisomal disorders and the 22q11.2 and 1p36 continguous gene deletion syndromes
  • Brain (dys)function, Congenital disorders
  • https://doi.org…02/ajmg.c.31399