P139 – 3023: First epileptic seizures in children followed for cardiac rhabdomyomas and tuberous sclerosis

Abstract

Objective Tuberous sclerosis (TSC) is a congenital multisystemic disease affecting also nervous system; including early onset of epilepsy and risk of mental retardation. Cardiac rhabdomyoma (CR) is the earliest diagnostic criterion of TSC. It belongs to the major diagnostic criteria of TSC. Finding of CR enables prenatal/early postnatal identification of children at risk of TSC and allows to follow up these children from early neonatal period. Methods 29 children with CR were followed up from 01/2002 to 01/2015 from neonatal age. Several clinical, EEG and neuroimaging characteristics were evaluated including age at seizure onset, types of seizures and psychomotor development in these children. Results Our series included 15 boys and 14 girls. In 26/29 (90%) children with CR the diagnosis of TSC was established. Two children with TSC died. Twenty-three (23/26, 88%) children with TSC have developed epilepsy, 18/23 (70%) of them within the first year of life and seizure types consisted of partial motor seizures (13/23), infantile spasms (5/23) and other generalized types of seizures (5/23). Early administration of antiepileptic drug(s) resulted in complete seizure control in 13/23 patiens. Mental retardation was proven in 14/26 TSC children; always in subjects with early manifestation of epilepsy. In 3/29 children with CR, the diagnosis of TSC was not established; no one of them developed epilepsy. Conclusion 1) Epilepsy starts in children with TSC usually before the first year of life. Seizures most often include partial motor, less frequently infantile spasms and other generalized types of seizures. 2) Mental retardation dominates in TSC children with early manifestation and difficultto-compensated epilepsy. 3) Children with CR who did not fulfill diagnostic criteria for TSC, have not developed epilepsy. 4) We suppose positive impact of early initiated antiepileptic treatment on the psychomotor development of these children with TSC. Supported by project 00064203-IG6005, project EPISTOP