bfpp is a cobblestone-like cortical malformation of the brain. disruptions of cerebral cortical development due to abnormal neuronal migration and positioning usually lead to cortical disorders, which includes cobblestone lissencephaly. cobblestone lissencephaly is typically seen in three different human congenital muscular dystrophy syndromes: fukuyama congenital muscular dystrophy, walker-warburg syndrome, and muscle-eye-brain disease. in cobblestone lissencephaly, the brain surface actually has a bumpy contour caused by the presence of collections of misplaced neurons and glial cells that have migrated beyond the normal surface boundaries of the brain. sometimes regions populated by these misplaced cells have caused a radiologic misdiagnosis of polymicrogyria. however, the presence of other abnormalities in these cobblestone lissencephaly syndromes, including ocular anomalies, congenital muscular dystrophy, ventriculomegaly, and cerebellar dysplasia, usually distinguishes these disorders from polymicrogyria. there are no anatomopathologic studies that have characterized the pattern of cortical laminar alterations in patients with gpr56 gene mutations, but it has been suggested that the imaging characteristics of bfpp, including myelination defects and cerebellar cortical dysplasia, are reminiscent of those of the so-called cobblestone malformations (muscle-eye-brain disease and fukuyama congenital muscular dystrophy) that are also associated with n-glycosylation defects in the developing brain.