Vagus nerve stimulation in Lafora body disease

Abstract

IntroductionLafora 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.Case presentationA 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.ConclusionTo 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.

Lafora disease — from pathogenesis to treatment strategies

“…Besides AEDs, vagal nerve stimulation resulted in temporary cessation of generalized tonic-clonic seizures and status epilepticus in two single-case studies 103,104 . The ketogenic diet was also tried in a group of patients with relatively advanced disease but was shown to be ineffective 99 .…”

Managing Lafora body disease with vagal nerve stimulation

“…Our patient showed improvement in her various types of seizures. This is similar to the previously reported case of the effectiveness of VNS in LBD in which, after one year of follow‐up, the patient demonstrated cessation of the GTCS and status epilepticus episodes, in addition to a significant decrease in myoclonus and moderate reduction in cerebellar symptomatology (Hajnsek et al ., ). One general limitation of the case report that can be noted is that we are dealing with a retrospective single case and the placebo effect cannot be eliminated when assessing the usefulness of VNS in decreasing the frequency of the seizures discussed above.…”

“…Patients with LBD may respond at first to anticonvulsants but with time they become pharmaco‐resistant (Andrade et al ., ). To date, only one case is reported in the literature showing the utility of VNS in LBD (Hajnsek et al ., ); herein, we report the second such case.…”

Enfermedad de Lafora: revisión de la bibliografía

“…-Estimulación del nervio vago. Se han descrito dos casos de pacientes en los que se ha producido una mejora de los síntomas mediante el implante de un estimulador del nervio vago [62,63]. El mecanismo por el cual esta técnica funciona no está claro, pero debe implicar alteraciones en la modulación de neurotransmisores de la irritabilidad cortical [62].…”