[A patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS) and cerebral infarction].
We describe a patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS). This patient showed central hypotonia, mental retardation, disappearance of language, multiple facial anomalies, and intractable epilepsy. Overnight EEG showed CSWS (spike & wave index = 99.2%) at seven years of age. Chromosomal analysis using G-banding revealed a deletion at the end of chromosome 22, indicative of 22q13 syndrome. In addition, subsequent magnetic resonance imaging (MRI) demonstrated cerebral infarction in the left posterior temporal area, which was probably caused by recurrent status epilepticus. Unlike previous case reports, a striking feature in this patient was the development of motor deterioration after 15 years of age. The severe EEG abnormalities and frequent status epilepticus might induce this deterioration and brain infarction.
Akaike
Hiroto
H
Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo.
Osawa
Maki
M
Sugai
Kenji
K
Nakagawa
Eiji
E
Komaki
Hirofumi
H
Suzuki
Ikuko
I
Sasaki
Masayuki
M
D000328:Adult; D002544:Cerebral Infarction / Q000150:complications / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D012890:Sleep / Q000502:physiology