8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

Nakayama, Tojo; Nabatame, Shin; Saito, Yoshiaki; Nakagawa, Eiji; Shimojima, Keiko; Yamamoto, Toshiyuki; Kaneko, Yu; Okumura, Keiko; Fujie, Hiromi; Uematsu, Mitsugu; Komaki, Hirofumi; Sugai, Kenji; Sasaki, Masayuki

doi:10.1016/j.seizure.2012.01.002

« Previous Next »Seizure: European Journal of Epilepsy
Volume 21, Issue 4 , Pages 295-299, May 2012

8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

Tojo Nakayama
- Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan
- Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aoba-ku, Sendai 980-8574, Japan
Shin Nabatame
- Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan
Yoshiaki Saito
- Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan
- Corresponding author. Tel.: +81 42 341 2711; fax: +81 42 346 1705.
Eiji Nakagawa
- Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan
Keiko Shimojima
- Tokyo Women's Medical University Institute for Integrated Medical Sciences, 8-1 Kawada-cho, Shinjuku-ward, Tokyo 162-8666, Japan
Toshiyuki Yamamoto
- Tokyo Women's Medical University Institute for Integrated Medical Sciences, 8-1 Kawada-cho, Shinjuku-ward, Tokyo 162-8666, Japan
Yu Kaneko
- Department of Neurosurgery, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan
Keiko Okumura
- Department of Pediatrics, Matsudo City Hospital, 4005, Kamihongo, Matsudo, Chiba 271-8511, Japan
Hiromi Fujie
- Division of Pediatrics, Iwaki Kyoritsu Hospital, 16 Kusehara, Mimayamachi, Uchigo, Iwaki, Fukushima 987-8555, Japan
Mitsugu Uematsu
- Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aoba-ku, Sendai 980-8574, Japan
Hirofumi Komaki
- Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan
Kenji Sugai
- Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan
Masayuki Sasaki
- Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan

Received 21 April 2011; received in revised form 4 January 2012; accepted 4 January 2012. published online 02 February 2012.

Abstract

We describe two individuals with the same chromosomal aberrations derived from an unbalanced translocation between chromosomes 8p and 9p, who presented with intellectual disabilities, dysmorphic features, and localization-related epilepsy. Several years after the onset of epilepsy, aggravation of widespread epileptic discharges during sleep resulted in the emergence of absence and/or atonic seizures in both patients; one patient additionally presented with psychomotor deterioration. These symptoms completely disappeared after treatment with ethosuximide and benzodiazepines, and marked improvement was observed in electroencephalographic findings. We review the clinical features of der(8)t(8;9) with particular focus on epileptic complications. We conclude that particular types of chromosomal aberrations may have a propensity to develop the condition categorized as electrical status epilepticus in sleep.

Keywords: Chromosome imbalance, Electrical status epilepticus in sleep, 8p deletion, 9p duplication, Polymicrogyria