Responsive Neurostimulation for Intractable Epilepsy in Phelan–McDermid Syndrome

Steven Marc Wolf; Patricia Engel McGoldrick; Nikita Garg; Saadi Ghatan; Fedor Panov; Rachel Moss; Prashant Singh; Kevin Van Geem

doi:10.1055/s-0040-1709434

Journal of Pediatric Epilepsy, Inhaltsverzeichnis

Journal of Pediatric Epilepsy 2020; 09(02): 042-047
DOI: 10.1055/s-0040-1709434

Case Report

Georg Thieme Verlag KG Stuttgart · New York

Responsive Neurostimulation for Intractable Epilepsy in Phelan–McDermid Syndrome

Steven Marc Wolf

¹Division of Child Neurology, Boston Children's Health Physicians and Maria Fareri Children's Hospital, New York Medical College, Hawthorne, New York, United States

,

Patricia Engel McGoldrick

¹Division of Child Neurology, Boston Children's Health Physicians and Maria Fareri Children's Hospital, New York Medical College, Hawthorne, New York, United States

,

Nikita Garg

²Lady Hardinge Medical College, New Delhi, Delhi, India

,

Saadi Ghatan

³Department of Neurosurgery, Icahn School of Medicine at Mount Sinai Health System, New York, New York, United States

,

Fedor Panov

³Department of Neurosurgery, Icahn School of Medicine at Mount Sinai Health System, New York, New York, United States

,

Rachel Moss

⁴Department of Pediatrics, Icahn School of Medicine at Mount Sinai Health System, New York, New York, United States

,

Prashant Singh

⁵Jhalawar Medical College, Jhalawar, Rajasthan, India

,

Kevin Van Geem

⁶Pediatric Epilepsy Research, Icahn School of Medicine at Mount Sinai Health System, New York, New York, United States

› Institutsangaben

Abstract

Responsive neurostimulation (RNS) is an approved treatment for intractable epilepsy in the adult population but has not yet been approved for pediatric patients. We present here the first reported case of a 14-year-old adolescent with 22q13.3 syndrome (more commonly known as Phelan–McDermid syndrome) with intractable epilepsy who showed clinical improvement after implantation of an RNS device. The patient had trialed 10 antiepileptic drugs without improvement and despite magnetic resonance imaging (MRI) demonstrating left mesial temporal sclerosis (MTS), the patient was not considered as a candidate for temporal lobe resection due to multifocal seizure activity on electroencephalogram (EEG). At 23 months postoperatively, she has experienced 86.7% reduction in seizure frequency; a clinical improvement which emphasizes the importance of considering RNS treatment for those with intractable epilepsy in the pediatric population, even in the setting of known genetic syndromes.

Keywords

Phelan-McDermid epilepsy - neurostimulation - 22q13.3 syndrome

Volltext

Referenzen

References
1 Costales JL, Kolevzon A. Phelan-McDermid syndrome and SHANK3: implications for treatment. Neurotherapeutics 2015; 12 (03) 620-630
2 Phelan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan-McDermid syndrome). Mol Syndromol 2012; 2 (3-5): 186-201
3 Phelan K, Rogers RC, Boccuto L. Phelan-McDermid Syndrome. In: Adam MP, Ardinger HH, Pagon RA. , et al, eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993. –2018
4 Heck CN, King-Stephens D, Massey AD. , et al. Two-year seizure reduction in adults with medically intractable partial onset epilepsy treated with responsive neurostimulation: final results of the RNS System Pivotal trial. Epilepsia 2014; 55 (03) 432-441
5 Jeffries AR, Curran S, Elmslie F. , et al. Molecular and phenotypic characterization of ring chromosome 22. Am J Med Genet A 2005; 137 (02) 139-147
6 Adam MP, Ardinger HH, Pagon RA. , et al , eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993. –2018
7 Klinger N, Mittal S. Deep brain stimulation for seizure control in drug-resistant epilepsy. Neurosurg Focus 2018; 45 (02) E4
8 Singhal NS, Numis AL, Lee MB. , et al. Responsive neurostimulation for treatment of pediatric drug-resistant epilepsy. Epilepsy Behav Case Rep 2018; 10: 21-24
9 Kokoszka MA, Panov F, La Vega-Talbott M, McGoldrick PE, Wolf SM, Ghatan S. Treatment of medically refractory seizures with responsive neurostimulation: 2 pediatric cases. J Neurosurg Pediatr 2018; 21 (04) 421-427