Introduction:

Mutation in the protocadherin 19 (PCDH19) gene is an increasingly recognized cause of epilepsy in females. This disorder is frequently associated with mental retardation and psychiatric features. In our country, the molecular diagnostic test is not available.

Objective: To describe a patient with y epilepsy due to PCDH19 mutation with molecular confirmation.

Materials and Methods: Review of medical reports.

Results: Female,  4 years of age with epilepsy secondary to mutation of the gene PCDH19.  Perinatal History: First child of non-consanguineous parents.  She was born in term with adequate weight for gestational age

She was admitted to the hospital at 9 months due to febrile status that evolved into non-convulsive status. Brain MRI was performed without pathological findings, negative blood and CSFcutures were obtained. Negative viral serology. Neurometabolic studies in blood, CSF and urine revealed nothing abnormal.  High resolution karyotype was normal. Remained seizure-free for 3 months, then she started with episodes of complex partial seizures with secondary generalization associated with mostly with fever. Myoclonic seizures were never noted.  In her evolution she developed ataxia and difficulties in language acquisition and socialization. No mutation was found in the SCN1A gene.   A C.1425_1426delGT heterozygous deletion (p.ser476Cysfs * 46) of the PCDH19 gene was found, producing a premature stop codon. Actually she is seizure free with Valproate, Topiramate and Clobazam treatment. She has rehabilitation therapies and school integration.

Conclusions:

The phenotype of suspicion involves women with clinical features similar to Dravet Syndrome but with better cognitive development and epilepsy outcome.