Epilepsy and Behavior Case Reports (Jan 2018)

Can the combination of hyperthermia, seizures and ion channel dysfunction cause fatal post-ictal cerebral edema in patients with SCN1A mutations?

  • Carina Büren,
  • Marcel Alexander Kamp,
  • Christopher Munoz-Bendix,
  • Hans-Jakob Steiger,
  • Joachim Windolf,
  • Maxine Dibué-Adjei

Journal volume & issue
Vol. 9
pp. 29 – 32

Abstract

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A 21-year-old male with an SCN1A mutation died of cerebral herniation 3 h after a seizure occurring during physical activity. Cases of fatal cerebral edema in patients with SCN1A mutations after fever and status epilepticus have been recently reported raising the question whether sodium channel dysfunction may contribute to cerebral edema and thereby contribute to the increased premature mortality in Dravet Syndrome. We report on our patient and discuss whether the combination of hyperthermia and ion channel dysfunction may not only trigger seizures but also a fatal pathophysiological cascade of cerebral edema and herniation leading to cardiorespiratory collapse. Keywords: Dravet Syndrome, SCN1A mutation, Fatality, Cerebral edema, Hyperthermia, SUDEP