Clinical features of tuberous sclerosis complex in children with epilepsy

Abstract

Objective To explore the clinical features of tuberous sclerosis complex (TSC) in children with epilepsy.  Methods The clinical data of 36 TSC children complicated with epilepsy were analyzed retrospectively.  Results All children had epilepsy as first symptom: 23 cases of seizures happened on age less than one year old (63.89%), 8 cases on age 1-3 years old (22.22%), and 5 cases on age more than 3 years old (13.89% ). Main attack types were as follows: 12 cases with focal seizures (33.33% ), 5 cases with generalized seizures (13.89% ), 7 cases with spasms (19.44% ) and 12 cases (33.33%) with mixed seizures. Mental retardation was found in 19 cases (67.86%). Among 30 cases who received brain MRI examination, all had subependymal nodules, 26 cases (86.67%) were complicated with cortical and subcortical nodules, 2 cases (6.67% ) with subependymal giant cell astrocytoma (SEGA), one case (3.33% ) with pachygyria. EEG examination showed interictal epileptiform discharges in 34 cases (94.44% ), including multifocal discharges in 12 patients (35.29% ), generalized discharges in 8 patients (23.53% ), focal discharges and hypsarrhythmia in 7 patients (20.59% ) respectively. Seizures were monitored in 8 patients, and the types included spasms in 4 cases, focal seizures in 3 cases, and myoclonic seizures in one case. Seventeen cases (47.22%) took one single antiepileptic drug, 12 cases (33.33%) took two drugs, and 7 cases (19.44%) took three drugs, while one of them underwent surgical treatment. After 0.50-10 year follow-up, seizures free happened in 7 cases (19.44%), improved in 16 cases (44.44%), and invalid in 13 cases (36.11%).  Conclusions Epilepsy is the most common nervous system performance in children TSC, and most seizures begin to happen in infants. The main types of onset are partial seizures and spasms. Most of the patients get improved with antiepileptic drugs.

doi: 10.3969/j.issn.1672-6731.2014.12.011