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

Maurizio Elia; Carmelo Amato; Maria Bottitta; Lucia Grillo; Giuseppe Calabrese; Maria Esposito; Marco Carotenuto

doi:10.1016/j.braindev.2012.03.005

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

Brain Dev. 2012 Nov;34(10):873-6. doi: 10.1016/j.braindev.2012.03.005. Epub 2012 Apr 1.

Authors

Maurizio Elia¹, Carmelo Amato, Maria Bottitta, Lucia Grillo, Giuseppe Calabrese, Maria Esposito, Marco Carotenuto

Affiliation

¹ Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.

PMID: 22469695
DOI: 10.1016/j.braindev.2012.03.005

Abstract

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 385G>A (G129R) 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.

Publication types

Case Reports

MeSH terms

Adolescent
Brain / pathology
Epilepsies, Partial / complications
Epilepsies, Partial / genetics*
Female
Genetic Predisposition to Disease / genetics*
Hamartoma Syndrome, Multiple / diagnosis
Hamartoma Syndrome, Multiple / genetics*
Humans
Malformations of Cortical Development / complications
Malformations of Cortical Development / genetics*
Mutation / genetics*
PTEN Phosphohydrolase / genetics*

Substances

PTEN Phosphohydrolase
PTEN protein, human