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Front. Neurol. | doi: 10.3389/fneur.2019.00946

Drug-resistant juvenile myoclonic epilepsy: misdiagnosis of progressive myoclonus epilepsy

  • 1Center for Personalized Translational Epilepsy Research (CePTER ), Germany
  • 2Epilepsy Center Hessen, Department of Neurology, University of Marburg, Germany
  • 3Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University Frankfurt, Germany
  • 4Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe University Frankfurt, Germany
  • 5Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Canada
  • 6Hotchkiss Brain Institute & Alberta Children’s Hospital Research Institute, Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Canada

Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome characterized by bilateral myoclonic and tonic-clonic seizures typically starting in adolescence and responding well to medication. Misdiagnosis of a more severe progressive myoclonus epilepsy (PME) as JME has been suggested as a cause of drug-resistance.
Medical records of the Epilepsy Center Hessen-Marburg between 2005-2014 were automatically selected using keywords and manually reviewed regarding the presence of a JME diagnosis at any timepoint. The identified patients were evaluated regarding seizure outcome and drug resistance according to ILAE criteria.
87/168 identified JME patients were seizure-free at last follow-up including 61 drug-responsive patients (group NDR). 78 patients were not seizure-free including 26 drug-resistant patients (group DR). Valproate was the most efficacious AED. The JME diagnosis was revised in 7 patients of group DR including 6 in whom the diagnosis had already been questioned or revised during clinical follow-up. One of these was finally diagnosed with PME (genetically confirmed Lafora disease) based on genetic testing. She was initially reviewed at age 29 yrs and considered to be inconsistent with PME. Intellectual disability (p=0.025), cognitive impairment (p<0.001), febrile seizures in first-degree relatives (p=0.023) and prominent dialeptic seizures (p=0.009) where significantly more frequent in group DR.
Individuals with PME are rarely found among drug-resistant alleged JME patients in a tertiary epilepsy center. Even a very detailed review by experienced epileptologists may not identify the presence of PME before the typical features evolve underpinning the need for early genetic testing in drug-resistant JME patients.

Keywords: Epilepsy, Genetics, Lafora Disease, Progressive myoclonus epilepsy, juvenile myoclonic epilepsy, Pharmacoresistance

Received: 19 Jun 2019; Accepted: 15 Aug 2019.

Copyright: © 2019 Martin, Strzelczyk, Lindlar, Krause, Reif, Menzler, Chiocchetti, Rosenow, Knake and Klein. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: MD, PhD. Karl M. Klein, Center for Personalized Translational Epilepsy Research (CePTER ), Frankfurt/Marburg, Germany, k.klein@med.uni-frankfurt.de