RESUMO
La porencefalia familiar es un trastorno genético raro que produce quistes porencefálico, los cuales son secundarios a un infarto vascular prenatal o perinatal. La hemiparesia congénita, el retardo mental y la epilepsia de grado variable son las manifestaciones más frecuentes. Se describe el caso de dos hermanos, uno varón y la otra mujer, quienes presentan hallazgos en imágenes de resonancia magnética cerebral de quistes porencefálicos extensos que comprometen las regiones fronto-parieto-temporales de un hemisferio distinto en cada uno. Ambos presentaban hemiparesia congénita, retardo mental y epilepsia medicamente tratable con hallazgos electro-clínicos, de imágenes y neuropsicológicos que permitieron localizar la zona epileptogénica sobre la región dorsolateral del lóbulo frontal yacente al quiste porencefálico. En pacientes con hemiparesia congénita, retardo mental y epilepsia con quiste porencefálico se debe considerar la posibilidad de porencefalia familiar e indagar antecedentes familiares de este trastorno.
Familial porencephaly is a rare genetic disorder resulting in porencephalic cysts, which are secondary to prenatal or perinatal vascular infarction. Congenital hemiparesis, mental retardation, and epilepsy in variable degrees are the most frequent manifestations. We describe the case of two siblings, one male and the other female, who present findings in brain magnetic resonance imaging of extensive porencephalic cysts that compromise the fronto-parietal- temporal regions of a different hemisphere in each. Both presented congenital hemiparesis, mental retardation and medically treatable epilepsy with electro-clinical, imaging and neuropsychological findings allowed to locate the epileptogenic zone on the dorsolateral region of the frontal lobe lying to the porencephalic cyst. In patients with congenital hemiparesis, mental retardation and epilepsy with porencephalic cyst, the possibility of familial porencephaly should be considered and a family history of this disorder should be investigated.