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Revista de Neuro-Psiquiatría

Print version ISSN 0034-8597


DE LA CRUZ RAMIREZ, Walter F. Familial porencephaly epilepsy: clinical, EEG and MRI findings. Rev Neuropsiquiatr [online]. 2017, vol.80, n.4, pp.277-281. ISSN 0034-8597.

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.

Keywords : Porencephalic cyst; familial porencephaly; epilepsy.

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