STATUS EPILEPTICUS OF MIGRATING FOCAL SEIZURES AT GM<sub>2</sub>-GANGLIOSIDOSIS. A RARE CLINICAL CASE
<i>GM</i><sub><i>2</i></sub><i>-gangliosidosis type B (Tay-Sachs disease) is a rare disease from the group of lysosomal storage disorders with autosomal-recessive type of inheritance. This disease is caused by disruption of GM</i><sub><i>2</i></sub><i>-gangliosid catabolism due to the mutation of gene HEXA coding а-subunit β-hexosaminidase А with location at 15q23-q24 (OMIM code 272800). GM</i><sub><i>2</i></sub><i>-gangliosidoses usually develop a clinical presentation of severe pharmacologically resistant forms of epilepsies. The article describes personal clinical observation of a female patient with migrating focal seizures with a tendency to status epilepticus and fixed by video-EEG monitoring. The diagnosis was based on complex clinical, ophthalmological (central «cherry-red» spot symptom), neurophysiological investigations, neuroimaging and biochemical analysis (totally decreasing of hexosaminidase А activity). It is noteworthy that clinical and EEG findings in this patient are similar to such a severe form of epilepsy as «malignant migrating partial seizures of infancy» but have a later onset of the observed pathological phenomena.</i>