title: Vagus nerve stimulation in Lafora body disease.
abstract: BACKGROUND
  Lafora body disease (LBD) is a rare autosomal recessive disorder characterized by progression to inexorable dementia and frequent occipital seizures, in addition to myoclonus and generalized tonic-clonic seizures (GTCSs). It belongs to the group of progressive myoclonus epilepsies (PMEs), rare inherited neurodegenerative diseases with great clinical and genetic differences, as well as poor prognosis. Since those patients have a pharmacoresistant disease, an adjunctive treatment option is vagus nerve stimulation (VNS). To date, there are four reported cases of the utility of VNS in PME - in Unverricht-Lundborg disease (ULD), myoclonic epilepsy with ragged-red fibers (MERRF), Gaucher's disease, and in one case that remained unclassified.
  
  
  METHODS
  A 19-year-old male patient had progressive myoclonus, GTCSs that often progressed to status epilepticus (SE), progressive cerebellar and extrapyramidal symptomatology, and dementia, and his disease was pharmacoresistant. We confirmed the diagnosis of LBD by genetic testing. After VNS implantation, in the one-year follow-up period, there was a complete reduction of GTCS and SE, significant regression of myoclonus, and moderate regression of cerebellar symptomatology.
  
  
  CONCLUSIONS
  To our knowledge, this is the first reported case of the utility of VNS in LBD. Vagus nerve stimulation therapy may be considered a treatment option for different clinical entities of PME. Further studies with a larger number of patients are needed.
authors: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department of Neurology, Referral Centre for Epilepsy of the Ministry of Health of the Republic of Croatia, Kispaticeva 12, 10000 Zagreb, Croatia.
authors: Sanja
authors: S
authors: Hajnsek
authors: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department of Neurology, Referral Centre for Epilepsy of the Ministry of Health of the Republic of Croatia, Kispaticeva 12, 10000 Zagreb, Croatia.
authors: Zeljka
authors: Z
authors: Petelin Gadze
authors: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department for Functional Genomics, Centre for Translational and Clinical Sciences, Salata 2, 10000 Zagreb, Croatia.
authors: Fran
authors: F
authors: Borovecki
authors: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department of Neurology, Referral Centre for Epilepsy of the Ministry of Health of the Republic of Croatia, Kispaticeva 12, 10000 Zagreb, Croatia.
authors: Sibila
authors: S
authors: Nankovic
authors: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department of Neurosurgery, Kispaticeva 12, 10000 Zagreb, Croatia.
authors: Goran
authors: G
authors: Mrak
authors: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department for Functional Genomics, Centre for Translational and Clinical Sciences, Salata 2, 10000 Zagreb, Croatia.
authors: Kristina
authors: K
authors: Gotovac
authors: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department of Neurology, Referral Centre for Epilepsy of the Ministry of Health of the Republic of Croatia, Kispaticeva 12, 10000 Zagreb, Croatia.
authors: Vlatko
authors: V
authors: Sulentic
authors: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department of Neurology, Referral Centre for Epilepsy of the Ministry of Health of the Republic of Croatia, Kispaticeva 12, 10000 Zagreb, Croatia.
authors: Ivana
authors: I
authors: Kovacevic
authors: University Hospital Centre Zagreb and School of Medicine, University of Zagreb, Department of Neurology, Referral Centre for Epilepsy of the Ministry of Health of the Republic of Croatia, Kispaticeva 12, 10000 Zagreb, Croatia.
authors: Andreja
authors: A
authors: Bujan Kovac
keywords: Lafora body disease; Pharmacoresistance; Progressive myoclonus epilepsy; Vagus nerve stimulation