Cortical development disorder and refractory epilepsy: case report

Abstract

Introduction: Epilepsy affects cortical development compromising higher mental functions and is associated with developmental malformations recurrence rate is high, somatic mutations can be detected in about 30% of patients with cortical developmental malformation, in 76% of refractory epilepsies present as pharmacoresistant epilepsies. Objective: to determine the management and therapeutics of cortical developmental disorder and refractory epilepsy in a clinical case, to establish novel and instructive elements of the disease. Methodology: descriptive, retrospective, clinical case study. The technique used for the collection of the case information was by reviewing the clinical history and for the description of the pathology was by collecting articles extracted from recognized databases such as: Scopus, PorQuest, Pubmed, web of science, lilacs. Inclusion criteria: articles published in the last 5 years, in Spanish and English. The legal ethical process is fulfilled with the signature of the assent. Results: Male patient 6 years old, debuts with epileptic characteristic events at 5 years old, is evaluated by a doctor who prescribes Valcote and lamotrigine, however the seizures become refractory, so clobazan (ubadam) is added without improvement, this patient has compromise with cognitive function, As the months go by the patient suffers deterioration of the function, in the magnetic resonance has heterotopias so the patient is catalogued as cortical development disorder and refractory epilepsy, at the moment he is stable without convulsive crisis with medication.  Conclusions: there is a high prevalence of refractory epilepsy in patients with cortical development disorders, its main manifestation is seizures and neurological involvement, the diagnosis includes clinical, imaging studies, electroencephalogram, and genetic detail. More than half of the patients require 2 or more drugs to control seizures. Treatment may require surgical intervention if it does not improve with the usual drugs, and supplemental ketogenic diet is important to limit seizures. Treatment may require surgical intervention if it does not improve with the usual drugs, and supplemental ketogenic diet is important in the treatment.