Elzbieta Szczepanik, Iwona Terczynska, Dorota Antczak-Marach, Paulina Gorka-Skoczylas and Dorota Hoffman-Zacharska
Introduction: We present a patient with Dravet syndrome (DS) caused by the SCN1A mutation, and with neonatal seizure history.
Material and Methods: Patient medical history was reviewed with focus on onset age, seizure types, EEG features, neuroimaging studies and treatment response.
Results: A 16-month-old boy with an abnormal perinatal period presented a seizure on the second day of life during febrile congenital infection. He had developed focal right-sided seizures with sensitivity to low-grade fever since 4 months of age. The SCN1A nonsense mutation was confirmed. Subsequent disease course with multiple seizure type’s development became consistent with DS clinical diagnosis.
Conclusions: DS diagnosis should not be ruled out in patients with neonatal seizures who meet the clinical, EEG and evolution criteria for this syndrome.