A familial case of myoclonus-epilepsy of Unferricht-Lundborg

Abstract

Introduction. The article presents a rare observation of a family case of Unverricht-Lundborg disease, a variants of myoclonus-epilepsy characterized by a hyperactive state of cortical-subcortical motor mechanisms that cause stationary myoclonus of subcortical genesis and «trigger» generalized epileptic seizures when it intensifies. Due to the low frequency of occurrence, only single observations of Unverricht-Lundborg disease have previously been published. The aim of this work was to highlight the clinical features of a rare familial variant of Unferricht-Lundborg myoclonus-epilepsy in comparison with the manifestations of single cases described in the literature. Materials and methods. We present a family case of the disease in three siblings, manifesting as they reached the age of disease debut. The family pedigree in several generations is analyzed, and the life and manifestations of the disease in each of the brothers are described. The disease pattern of single siblings and semiology in single cases of myoclonus epilepsy were compared. Results and Discussion. By the example of the description of a family case of the disease, the importance of clinical characteristics is emphasized, which determines the further strategy of diagnostic search and application of instrumental methods of investigation. In addition, the collection of complaints, history, and neurological examination data when diagnosing Unferricht-Lundborg disease allow a specialist to differentiate it from various variants of hereditary myoclonus-epilepsy (up to 15 variants according to the literature), the similarity of symptoms of which may lead to an erroneous diagnosis. Modern lines of supportive therapy of Unferricht-Lundborg disease, allowing to slow down the progressive nature of the incurable pathology, are analyzed, the characteristics of the action of individual drugs are given. Conclusion. There are a number of similarities and differences in the clinical manifestations of Unferricht-Lundborg myoclonus-epilepsy in sporadic or familial variants of the disease. The leading triad of symptoms has chronologically inconsistent initiation in individual patients and different dominance in each individual case, which creates variability in the disease.