Neuropediatrics
DOI: 10.1055/s-0040-1708536
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report

1  Division of Neurology, Saitama Children's Medical Center, Saitama-City, Saitama, Japan
2  Department of Pediatrics, Tokyo Medical University, Shinjuku-ku, Tokyo, Japan
,
Shin-ichiro Hamano
1  Division of Neurology, Saitama Children's Medical Center, Saitama-City, Saitama, Japan
,
Satoru Ikemoto
1  Division of Neurology, Saitama Children's Medical Center, Saitama-City, Saitama, Japan
,
Yuko Hirata
1  Division of Neurology, Saitama Children's Medical Center, Saitama-City, Saitama, Japan
,
Ryuki Matsuura
1  Division of Neurology, Saitama Children's Medical Center, Saitama-City, Saitama, Japan
,
Reiko Koichihara
1  Division of Neurology, Saitama Children's Medical Center, Saitama-City, Saitama, Japan
,
Daiju Oba
3  Division of Medical Genetics, Saitama Children's Medical Center, Saitama-City, Saitama, Japan
,
Hirofumi Ohashi
3  Division of Medical Genetics, Saitama Children's Medical Center, Saitama-City, Saitama, Japan
› Author Affiliations
Further Information

Publication History

09 September 2019

19 January 2020

Publication Date:
16 March 2020 (online)

Abstract

Background Nonketotic hyperglycinemia is a severe form of early onset epileptic encephalopathy caused by disturbances in the glycine cleavage system; the neurological damage is mainly attributed to overstimulation of the N-methyl-D-aspartate receptor.

Case The patient presented with a severe form of nonketotic hyperglycinemia and experienced frequent epileptic spasms and focal seizures, which were resistant to vigabatrin, adrenocorticotropic hormone therapy, and combined dextromethorphan and sodium benzoate treatments. By 9 months of age, perampanel reduced epileptic spasms by >50%. At 14 months of age, the ketogenic diet markedly reduced focal seizures and glycine levels in the cerebrospinal fluid.

Conclusion Perampanel reduced fast excitatory neuronal activity, which was induced by an α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor, followed by prolonged electrical depolarizations due to an N-methyl-D-aspartate receptor. Furthermore, the ketogenic diet may have modulated the excessive neurotoxic cascade through the N-methyl-D-aspartate receptor. Perampanel and ketogenic diet were effective for seizure control in our patient.

Consent for Publication

Written consent was obtained from the patient's guardian for publication.


Supplementary Material