authors: Domanska-Pakiela D., Kaczorowska M., Jurkiewicz E., Kotulska K., Dunin-Wasowicz D., Jozwiak S.

Eur J Paediatr Neurol. 2014 Jul;18(4):458-68. doi: 10.1016/j.ejpn.2013.12.006.

Abstract

Tuberous sclerosis complex (TSC) is a multisystem, autosomal dominant disorder characterized by multiple hamartomas development. Epilepsy is the most common symptom appearing in 80-90% of the patients mainly in the first year of life. A prompt and early seizure control is crucial and can prevent development of an epileptic encephalopathy and secondary mental retardation. Therefore the very early identification of seizures seems to be of a great importance. We present the cases of 5patients diagnosed with TSC prenatally or perinatally and regularly monitored (at 4-6 weeks intervals) with EEG before theepilepsyonset. The patientsage at baseline varied from 9 days to 9 weeks. In all of the patients epileptiform discharges preceded the epilepsyonset. The time interval between abnormality detection on EEG and the epilepsyonset varied from 1 to 8 days. The patient's age at the epilepsyonset ranged from the 17th day to the 5th month of life. In one patient the EEG was abnormal from the beginning and in this patient the epileptic seizures started from the neonatal period. In the rest of thepatients (4/5) the EEG remained normal throughout the first months of life. In all of the children epilepsy started with focal motor seizures. Our study is the first prospective one showing the results of the EEG monitoring in TSC patients and the natural evolution of the EEG patterns in patients with the seizures types other than infantile spasms.