title: Refractory and severe status epilepticus in a patient with ring chromosome 20 syndrome.
abstract: Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refractory epilepsy during childhood with gradual declines in cognitive performance and behavior. Although the prognoses of seizures and intellectual disability associated with this condition are poor, life-threatening complications have rarely been described. We herein presented a case of a 17-year-old female with [r(20)] syndrome who developed recurrent status epilepticus (SE) at 14years of age that evolved into unremitting SE in spite of vigorous antiepileptic treatments. She was administered thiopental anesthesia for 1year, and was subsequently left in severe neurological sequelae. It is important to note that patients with this syndrome not only have severe epileptic encephalopathy persisting into adulthood, but are also at risk of fatal SE.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan.
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Hirano
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan. Electronic address: oguni.hirokazu@twmu.ac.jp.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Oguni
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Nagata
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000009:adverse effects / Q000627:therapeutic use; D001921:Brain / Q000503:physiopathology; D000069279:Drug Resistant Epilepsy / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D004569:Electroencephalography; D005260:Female; D006801:Humans; D012303:Ring Chromosomes; D013226:Status Epilepticus / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D013874:Thiopental / Q000009:adverse effects / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D013874:Thiopental
keywords: Epilepsy; Ring chromosome 20 syndrome; Sodium thiopental anesthesia; Status epilepticus