A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet

Fahad A. Bashiri; Abrar Hudairi; Malak Al Ghamdi; Adel A. Mahmoud

doi:10.1055/s-0039-1691826

Journal of Pediatric Epilepsy, Table of Contents

Journal of Pediatric Epilepsy 2018; 07(04): 148-151
DOI: 10.1055/s-0039-1691826

Case Report

Georg Thieme Verlag KG Stuttgart · New York

A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet

Fahad A. Bashiri

¹College of Medicine, King Saud University, Riyadh, Saudi Arabia

²Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia

,

Abrar Hudairi

²Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia

,

Malak Al Ghamdi

¹College of Medicine, King Saud University, Riyadh, Saudi Arabia

³Division of Medical Genetics, Department of Pediatrics, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia

,

Adel A. Mahmoud

⁴Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia

› Author Affiliations

Abstract

Neonatal seizures may have multiple causes including metabolic and genetic etiologies. If a genetic diagnosis is known, it can guide the physician to choose the most appropriate treatment modality. SCN2A mutation is a rare cause of epileptic encephalopathy in the neonatal age group. It has a wide phenotypic variation, ranging from benign familial epilepsy to a malignant form of epilepsy. This mutation has been associated with Ohtahara syndrome, migrating focal seizures of infancy, West syndrome, Lennox–Gastaut syndrome, and generalized epilepsy with febrile seizures plus. We present the case of a newborn girl who presented with multiple types of seizures, starting at the age of 3 days. Our initial investigations were not able to identify the etiology of her intractable seizures. Whole exome sequencing confirmed an SCN2A mutation. Various antiepileptic drugs (AEDs), including phenobarbitone, phenytoin, levetiracetam, topiramate, vigabatrin, carbamazepine, clonazepam, and mexiletine, were tried. However, none provided an optimal response. She ultimately showed a dramatic response to the ketogenic diet (KD). This report highlights the effectiveness of the KD as a treatment modality for SCN2A mutation-related epileptic encephalopathy, particularly when seizures are intractable and unresponsive to conventional AEDs.

Keywords

epileptic encephalopathy - ketogenic diet - neonatal seizure - SCN2A

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References

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