Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation.
We report the case of on an 8-year-old girl with a cyclin-dependent kinase-like 5 mutation and who underwent vagus nerve stimulation (VNS) therapy for 2years. She had developed epilepsy at the age of 6months and had severe developmental delays. Initially, she had tonic and tonic-clonic seizures; however, around the age of 5years, she also developed epileptic spasms. These seizures were never completely controlled by conventional medical treatments. At the age of 7, after VNS initiation, her seizure frequency markedly reduced, and abnormal electrical activities on her electroencephalography tests strikingly decreased. Moreover, using questionnaires, we confirmed an improvement in her quality of life in the fields of alertness and activity. Although the efficacy of VNS therapy for patients with intractable epilepsy associated with a genetic anomaly has not been fully established, adjunctive VNS therapy may widen the scope of treatment choices available to these patients.
Department of Pediatrics, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan. Electronic address: sbabped@tmd.ac.jp.
Shimpei
S
Baba
Department of Pediatrics, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Yuji
Y
Sugawara
Department of Pediatrics, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Kengo
K
Moriyama
Department of Neurosurgery, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Motoki
M
Inaji
Department of Neurosurgery, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Taketoshi
T
Maehara
Tokyo Women's Medical University Institute for Integrated Medical Sciences, Shinjuku, Tokyo, Japan.
Toshiyuki
T
Yamamoto
Department of Pediatrics, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.
Tomohiro
T
Morio
D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000000981:diagnostic imaging / Q000187:drug effects / Q000503:physiopathology; D002648:Child; D003131:Combined Modality Therapy; D000069279:Drug Resistant Epilepsy / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy*; D005260:Female; D006801:Humans; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D016896:Treatment Outcome; D055536:Vagus Nerve Stimulation
D000927:Anticonvulsants; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human
Cycling-dependent kinase-like 5; Epileptic encephalopathy; Quality of life; Vagus nerve stimulation therapy