Sotaro Kanai1, Tohru Okanishi2, Ayataka Fujimoto3, Shinji Itamura4, Shimpei Baba4, Mitsuyo Nishimura5, Kazuya Itomi6, Hideo Enoki4. 1. Department of Child Neurology, Seirei-Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Hamamatsu 430-8558, Japan; Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan. 2. Department of Child Neurology, Seirei-Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Hamamatsu 430-8558, Japan. Electronic address: t.okanishi@sis.seirei.or.jp. 3. Comprehensive Epilepsy Center, Seirei-Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Hamamatsu 430-8558, Japan. 4. Department of Child Neurology, Seirei-Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Hamamatsu 430-8558, Japan. 5. Laboratory of Neurophysiology, Seirei-Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Hamamatsu 430-8558, Japan. 6. Department of Neurology, Aichi Children's Health and Medical Center, Obu 474-8710, Japan.
Abstract
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: 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: 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.
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: 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 epilepticspasms, 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: 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.
Authors: Daniel Ta; Jenny Downs; Gareth Baynam; Andrew Wilson; Peter Richmond; Helen Leonard Journal: Orphanet J Rare Dis Date: 2022-03-21 Impact factor: 4.123