John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

A child with hyperekplexia and epileptic myoclonus Volume 20, issue 4, August 2018

Video

  • A child with hyperekplexia and epileptic myoclonus

Figures

  • Figure 1
Authors
1 Faculty of Medicine, American University of Beirut, Beirut
2 Department of Anatomy, Cell biology and Physiological Sciences, American University of Beirut, Beirut
3 Division of Child Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
* Correspondence: Makram Obeid Division of Child Neurology, Department of Pediatrics and Adolescent, American University of Beirut, Medical Center, P.O. Box 11-0236 Riad EI Solh, Beirut 1107 2020, Lebanon
  • Key words: epilepsy, genetic, myoclonus, hyperekplexia, glycine receptor
  • DOI : 10.1684/epd.2018.0986
  • Page(s) : 279-82
  • Published in: 2018

Hyperekplexia is a rare neurogenetic disorder characterized by startle. Accurate diagnosis of this notorious mimicker of epilepsy is important to prevent life-threatening apnoea. We report a novel case of concomitant GLRA1-related hyperkeplexia and myoclonic epilepsy. A toddler with daily paroxysms of head drops and falls presented with epileptic myoclonus on EEG, however, whole-exome sequencing revealed hyperekplexia-related GLRA1 mutation. The boy eventually developed spells induced by noise and surprise. All his spells remitted upon treatment with clonazepam. Paediatricians and paediatric neurologists should be aware of this possible mixed presentation in order to appropriately tailor medication regimens and treatment goals. [Published with video sequence on www.epilepticdisorders.com].