(OMIM 175780)

Familial porencephaly. Autosomal dominant transmission of a mutation of the COL4A1 gene (13q), coding for collagen IVA1, a major constituent of all basal membranes ("basalopathy"). By definition, a porencephaly is a radiological image that corresponds to a  size fluid cavity of variable size, which can be bordered by abnormal micropolygyric grey matter and contact one of the lateral ventricles following an ante- or neonatal cerebral lesion. The phenotypic expression of the disease varies widely: some patients are barely symptomatic, while others present severe neurological symptoms in the neonatal period or early childhood in the form of:

-        prematurity with neonatal distress

-        hydrocephalus

-        infantile hemiparesis

-        psychomotor retardation

-        epilepsy.

Later, this condition can cause spontaneous or induced cerebral hemorrhage (trauma) before the age of 60 years.

Sometimes, an ocular involvement is associated with:

-  congenital or precocious cataract

-        or corneal opacities with irido-corneal synechiae (cfr Axenfeld-Rieger syndrome)

-        or tortuosity of retinal arteries, which can lead to recurrent retinal hemorrhages.

Anesthetic implications:

avoid hypertension (intubation) and intraoperative hyperventilation.

Updated: October 2018