| Abstract [eng] |
Introduction. Epileptic encephalopathy – is a form of drug-resistant epilepsy that begins in infancy and leads to developmental delay. Tuberous sclerosis complex is a rare disorder in which (due to tubers formation in the brain) early manifestation of epileptic seizures can lead to epileptic encephalopathies and, therefore, developmental delay. Early changes in the electroencephalogram provide a chance for preventive antiepileptic treatment with medications (everolimus, vigabatrin). Methods. We analyzed clinical data of 3 patients (aged 12-48 months old) treated in our clinic. Patients with tuberous sclerosis complex and epilepsy were evaluated and monitored according to individualized protocols from 2017 to 2022 years. Results. In all cases (female to male ratio 1:2), the diagnosis was made on clinical findings and later approved with genetic testing (TSC1- 1 patient; TSC2- 2 patients). Brain magnetic resonance imaging and electroencephalogram showed abnormal findings, resulting in preventive antiepileptic treatment with vigabatrin in the first 1-6 months. 2 patients with TSC2 experienced clinical seizures on the treatment with vigabatrin. One of them is now clinical seizure-free after valproic acid has been additionally administered. For the 3rd patient with TSC1, the withdrawal of vigabatrin has started. All 3 patients did not experience infantile spasms or epileptic encephalopathy although they have been diagnosed with mild developmental delay. Conclusions. Preventive antiepileptic treatment has been of great importance to all 3 patients – no hypsarrhythmia has been registered on electroencephalogram, patients did not experience infantile spams and there was no need for polytherapy. Development has been affected slightly and further monitoring is necessary. |
