Introduction. Severe infantile myoclonic epilepsy (Dravet syndrome) is a rare genetic epilepsy that manifests with prolonged generalized tonic-clonic or hemiclonic seizures induced by increased body or environment temperature in a infant or child with previously normal development. Early in the disease course cognitive, language and motor functions start to deteriorate.
Methods. Retrospective analysis of medical records was conducted in the Department of Pediatric Neurology in Children’s Hospital. In total 6 Dravet syndrome patients were evaluated and followed according to individualised protocols in 2010-2018.
Results. All patients (female to male 3:3, aged 1-8 years) were diagnosed early in the disease course when they developed classic clinical signs of Dravet syndrome. All patients had first seizure when they were 3 to 6 months old. 5 out of 6 cases suffered status epilepticus at least once. 2 of them had action myoclonus. Before the onset of seizures 5 out of 6 patients had normal development, 3 of them had normal EEG findings, in 2 cases photoparoxysmal reaction was elicited at least once. Imaging studies were performed in 5 cases, none of them had any changes on MRI.
Conclusions. In all cases the diagnosis was made based on clinical findings and later verified using genetic testing. SCN1A mutation was confirmed in all of them. All of the patients continue to have seizures despite aggressive pharmacological treatment. Patient observation and treatment plans meet international standards. At the moment both first and second line medications are available for treatment of Dravet syndrome in Lithuania.
