Epilepsy and hepatolenticular degeneration

Background. The problem of clarification of the mechanisms of joint formation of epilepsy and extrapyramidal motor defects is of particular interest in the medical community. Aim. To study the relationship of epilepsy with extrapyramidal motor defects in patients with neurological forms of hepatolenticular degeneration (HLD), who have homozygous and compound heterozygous mutations in the ATP7B gene. Materials and methods. A follow-up study of 100 patients with neurological forms of HLD and an analysis of the brain bioelectrical activity (electroencephalography) was performed in 46 of them. The molecular genetic study was carried out using the Sanger sequencing method of the ATP7B gene, the clinical study – taking into account the requirements of the Leicester scale (2001), the identification of the leading syndromes and 4 neurological forms – according to the classification of N.V. Konovalov (1960), neurophysiological (electroencephalography) – on a digital electroencephalograph Biola NeuroScope 420F (Russia) using montage of leads according to the “10–20” system (Jasper, 1954) during visual analysis of electroencephalogram curves with subsequent data processing on a personal computer in the SPSS Statistics v.23.0 software package (IBM, USA). Results. The maximum registration of epileptic seizures in HLD was established in childhood, when motor defects have not yet acquired features specific to defects of extrapyramidal origin. Epileptiform activity on the electroencephalogram in patients with HLD corresponds to typical epileptiform patterns. No reliable differences in the frequency of registration of alpha, theta, delta and beta activity in carriers of different types of mutations in the ATP7B gene are observed. The distinctive features of electroencephalogram for HLD are: predominance of slow-wave activity with a decrease in the functional mobility of cortical processes, alternation of episodes of desynchronization with periods of hypersynchronization of high-amplitude wave oscillations, “explosive” nature of bursts of sharp-wave patterns, similar to the reflection of myographic artifacts that coincide with an increase in the severity of hyperkinesis. Conclusion. The complexity of interpreting reflections of motor defects of extrapyramidal origin and epileptiform patterns in scalp curves of patients with HLD excludes the advisability of including electroencephalography in the complex of its main diagnostic criteria. However, the development of epileptic seizures in patients with any motor defects should be the basis for an in-depth diagnostic search aimed at excluding HLD.