title: Paroxysmal periodic dystonic postures in an infant with 18q23 deletion syndrome.
abstract: The 18q23 deletion syndrome is characterized by diverse neurological and psychiatric features, including developmental delays, epilepsy, and autism. We report on a female infant with an 18q23 deletion who displayed atypical periodic dystonic postures. Video-electroencephalography recordings were used to evaluate the involuntary nonepileptic movements in the infant. Although nonepileptic involuntary movements have been rarely reported in adult patients, there are no reports of paroxysmal periodic dystonia in infants with 18q23 deletion. This study suggests that clustered periodic dystonia should be clinically recognized as a phenotypic feature in some patients with 18q23 deletion syndrome.
authors.affiliation: Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima, Japan. ishikan@hiroshima-u.ac.jp
authors.forename: Nobustune
authors.initials: N
authors.lastname: Ishikawa
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: Yuji
authors.initials: Y
authors.lastname: Fujii
authors.forename: Masao
authors.initials: M
authors.lastname: Kobayashi
mesh_terms: D001921:Brain / Q000473:pathology; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D004421:Dystonia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging