A Patient with 22q13 Deletion Syndrome Accompanied by Epilepsy with Continuous Spike-Waves During Slow Wave Sleep (CSWS) and Cerebral Infarction

DOI 12 References
  • Akaike Hiroto
    Department of Child Neuroloy, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neruology and Psychiatry and Psychiatrys
  • Osawa Maki
    Department of Child Neuroloy, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neruology and Psychiatry and Psychiatrys
  • Sugai Kenji
    Department of Child Neuroloy, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neruology and Psychiatry and Psychiatrys
  • Nakagawa Eiji
    Department of Child Neuroloy, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neruology and Psychiatry and Psychiatrys
  • Komaki Hirofumi
    Department of Child Neuroloy, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neruology and Psychiatry and Psychiatrys
  • Suzuki Ikuko
    Department of Pediatrics, Moro Hspital Hilarinoie
  • Sasaki Masayuki
    Department of Child Neuroloy, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neruology and Psychiatry and Psychiatrys

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  • 学童期にｅｐｉｌｅｐｓｙ　ｗｉｔｈ　ｃｏｎｔｉｎｕｏｕｓ　ｓｐｉｋｅ‐ｗａｖｅｓ　ｄｕｒｉｎｇ　ｓｌｏｗ　ｗａｖｅ　ｓｌｅｅｐ（ＣＳＷＳ）を呈し，後に脳梗塞を併発した２２ｑ１３欠失症候群の１例

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Abstract

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.<BR>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.

Journal

  • NO TO HATATSU

    NO TO HATATSU 39 (6), 451-455, 2007

    THE JAPANESE SOCIETY OF CHILD NEUROLOGY

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