An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

[cowden syndrome]

We report the case of a girl with Cowden syndrome (CS ) presenting with unilateral perisylvian dysplasia and with drug resistant focal seizures carrying a novel missense mutation 385 G >A (G 129 R ) in the PTEN gene . CS has been rarely reported in association with a cortical malformation or epilepsy . These cases suggest that cortical dysplasia needs to be suspected when a CS patient presents with drug-resistant seizures .