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
1  Division of Child Neurology, Boston Children's Health Physicians and Maria Fareri Children's Hospital, New York Medical College, Hawthorne, New York, United States
,
1  Division 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
2  Lady Hardinge Medical College, New Delhi, Delhi, India
,
Saadi Ghatan
3  Department of Neurosurgery, Icahn School of Medicine at Mount Sinai Health System, New York, New York, United States
,
Fedor Panov
3  Department of Neurosurgery, Icahn School of Medicine at Mount Sinai Health System, New York, New York, United States
,
Rachel Moss
4  Department of Pediatrics, Icahn School of Medicine at Mount Sinai Health System, New York, New York, United States
,
Prashant Singh
5  Jhalawar Medical College, Jhalawar, Rajasthan, India
,
Kevin Van Geem
6  Pediatric Epilepsy Research, Icahn School of Medicine at Mount Sinai Health System, New York, New York, United States
› Author Affiliations
Funding None.
Further Information

Publication History

30 January 2020

04 March 2020

Publication Date:
30 April 2020 (online)

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.

Note

At the time of initial submission, S.W. was the Director of Pediatric Epilepsy at Icahn School of Medicine at Mount Sinai Health System, NYC and P.M. was part of the same facility.