Neonatal Seizures do not Exclude Dravet Syndrome DiagnosisElzbieta Szczepanik1, Iwona Terczynska1*, Dorota Antczak-Marach1, Paulina Górka-Skoczylas1,2 and Dorota Hoffman-Zacharska2
- *Corresponding Author:
- Iwona Terczynska
Clinic of Neurology of Children and Adolescents
Institute of Mother and Child, Kasprzaka 17A
01-211 Warsaw, Poland
Tel: +48 22 32 77 307
Fax: +48 22 32 77 130
E-mail: [email protected]
Received date: January 18, 2016 Accepted date: March 09, 2016 Published date: March 16, 2016
Citation: Szczepanik E, Terczynska I, Antczak-Marach D, Górka-Skoczylas P, Hoffman-Zacharska D (2016) Neonatal Seizures do not Exclude Dravet Syndrome Diagnosis. J Neurol Neurophysiol 7:360. doi:10.4172/2155-9562.1000360
Copyright: © 2016 Szczepanik E, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.