John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation Volume 18, numéro 1, March 2016

1 Duke University Medical Center, Durham
2 Carolinas Healthcare System, Charlotte, NC, USA
* Correspondence: Mohamad A. Mikati Department of Pediatrics, Division of Neurology, Duke University Medical Center, Suite T0913J, Children Health Center 2301, Erwin Road, Durham, NC 27710, USA
  • Mots-clés : epilepsy, speech regression, electrical status epilepticus in sleep (ESES), NMDA 2A receptor
  • DOI : 10.1684/epd.2016.0791
  • Page(s) : 97-100
  • Année de parution : 2016

Landau-Kleffner syndrome (LKS) has been demonstrated in the past to respond to immunotherapy. Recently, some cases of LKS have been shown to be secondary to glutamate receptor (GRIN2A) mutations. Whether such cases respond to immunotherapy is not known. Here, we present the case of a 3-year-old boy with LKS found to have a GRIN2A heterozygous missense mutation, whose clinical symptoms and EEG responded to a course of combination oral steroids and monthly infusions of intravenous immunoglobulin. He then relapsed after discontinuation of this therapy, and responded again after a second course of intravenous immunoglobulin. We conclude that immunotherapy should be considered as a therapeutic option in patients with LKS who are also found to harbour GRIN2A mutations.