Successful corpus callosotomy for post-encephalopathic refractory epilepsy in a patient with MECP2 duplication syndrome.
Acute encephalopathy
Corpus callosotomy
Epilepsy surgery
MECP2 duplication syndrome
Post-encephalopathic epilepsy
Journal
Brain & development
ISSN: 1872-7131
Titre abrégé: Brain Dev
Pays: Netherlands
ID NLM: 7909235
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
received:
05
06
2018
revised:
08
08
2018
accepted:
25
09
2018
pubmed:
14
10
2018
medline:
6
6
2019
entrez:
14
10
2018
Statut:
ppublish
Résumé
Patients with MECP2 duplication syndrome present with distinct facial anomalies and clinical features such as global developmental delay, recurrent respiratory infections, and epileptic seizures. Approximately half of all patients develop epileptic seizures which are refractory in most cases despite active medical management. Furthermore, no previous reports have discussed the efficacy of surgical treatment for seizures in patients with MECP2 duplication syndrome. In the present report, we describe a case of MECP2 duplication syndrome in a 15-year-old boy who developed epileptic seizures following influenza-associated acute encephalitis. His frequent epileptic spasms, tonic, atonic, and partial seizures were refractory to multiple antiepileptic medications. Electroencephalography revealed continuous diffuse epileptic discharge, resulting in regression. A total corpus callosotomy (CC) was performed at the age of 14 years and 7 months. His seizures markedly decreased following CC, although he continued to experience brief partial seizures approximately once per month. Post-operative examination revealed that his epileptic discharges had disappeared, and that his developmental state had returned to pre-encephalopathy levels. Our findings indicate that CC may represent a valuable surgical option for children with medically refractory generalized seizures following acute encephalopathy, irrespective of genetic disorders such as MECP2 duplication syndrome.
Sections du résumé
BACKGROUND
BACKGROUND
Patients with MECP2 duplication syndrome present with distinct facial anomalies and clinical features such as global developmental delay, recurrent respiratory infections, and epileptic seizures. Approximately half of all patients develop epileptic seizures which are refractory in most cases despite active medical management. Furthermore, no previous reports have discussed the efficacy of surgical treatment for seizures in patients with MECP2 duplication syndrome.
CASE REPORT
METHODS
In the present report, we describe a case of MECP2 duplication syndrome in a 15-year-old boy who developed epileptic seizures following influenza-associated acute encephalitis. His frequent epileptic spasms, tonic, atonic, and partial seizures were refractory to multiple antiepileptic medications. Electroencephalography revealed continuous diffuse epileptic discharge, resulting in regression. A total corpus callosotomy (CC) was performed at the age of 14 years and 7 months. His seizures markedly decreased following CC, although he continued to experience brief partial seizures approximately once per month. Post-operative examination revealed that his epileptic discharges had disappeared, and that his developmental state had returned to pre-encephalopathy levels.
CONCLUSION
CONCLUSIONS
Our findings indicate that CC may represent a valuable surgical option for children with medically refractory generalized seizures following acute encephalopathy, irrespective of genetic disorders such as MECP2 duplication syndrome.
Identifiants
pubmed: 30314874
pii: S0387-7604(18)30252-3
doi: 10.1016/j.braindev.2018.09.008
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
296-300Informations de copyright
Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.