Caracterización de la población pediátrica costarricense con esclerosis tuberosa y descripción del comportamiento de la epilepsia asociada

Abstract

Tuberous sclerosis (TS) is a pathology with an autosomal dominant pattern of inheritance that is due to a disorder affecting cell differentiation and proliferation that produces hamartomas in different organs. Its variable forms affect the central nervous system, the kidneys, the skin and other organs. No studies have been conducted on its prevalence and behaviour in the paediatric population of Costa Rica. To characterise the paediatric population with TS in Costa Rica and to describe the behaviour of its epilepsy. The study analyses prevalence based on a review of the clinical records of all the patients under 18 years of age diagnosed with TS treated at the National Children's Hospital over the period 2000-2010. RESULTS; During the period under study a total of 37 patients were included for a prevalence of 3.09 per 100,000 live births (95% confidence interval = 1.88-4.31). No significant differences were observed according to sex. The mean age at diagnosis was 14 months. The most frequent major criteria were hypomelanotic macules (97.3%), facial angiofibromas (56%) and cortical tuberomas (54.1%). Thirty-five patients presented convulsions (95%). The treatments that achieved a reduction in the number of seizures of at least 50% were vigabatrine (16.2%) and epilepsy surgery (16.2%). CONCLUSIONS; All patients with epilepsy should be submitted to a thorough examination of the skin, since skin lesions are a very frequent finding in TS. Epilepsy in TS is pharmacoresistant in a large number of patients, and vigabatrine must be considered as first-line pharmacological treatment.