Porencephaly, Cerebellar Hypoplasia, And Internal Malformations

Bonnemann and Meinecke (1996) reported the cases of brother and sister infants with an apparently new, probably autosomal recessive syndrome of bilateral porencephaly, cerebellar hypoplasia (including absence of the vermis), and internal malformations. The boy had tetralogy of Fallot and total situs inversus. The sister had an atrial septal defect. The parents, of Turkish ancestry, were related as first cousins. In cases of extensive bilateral porencephaly, the term 'basket brain' has been coined, referring to the remaining parasagittal tissue, giving the brain the appearance of a basket with a handle. Bonnemann and Meinecke (1996) noted that the topography of the insult often resembles the territory of the middle cerebral artery, suggesting a vascular cause for this disruptive insult.