title: Laryngeal dystonia in xeroderma pigmentosum.
abstract: We report on three patients with xeroderma pigmentosum group A (XPA) who showed laryngeal stridor in their 20s. The stridor appeared on feeding and emotional excitation, was exaggerated during respiratory infection and was life-threatening on some occasions. Adduction of the vocal cords during inspiration, observed by laryngoscopy, confirmed laryngeal dystonia in all cases. This type of focal dystonia may be characteristic in XPA and requires special attention during the management of these patients to avoid serious complications.
authors.affiliation: Department of Pediatrics and Pediatric Neurology, Yokohama Ryo-iku Medical Center, 557-2 Ichizawa-cho, Asahi-ku, Yokohama, and Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Muto
authors.forename: Akira
authors.initials: A
authors.lastname: Matsui
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Hiroko
authors.initials: H
authors.lastname: Iwamoto
authors.forename: Kaori
authors.initials: K
authors.lastname: Kaneko
authors.forename: Kaori
authors.initials: K
authors.lastname: Masuko
authors.forename: Yuri
authors.initials: Y
authors.lastname: Chikumaru
authors.forename: Kazuyo
authors.initials: K
authors.lastname: Saito
authors.forename: Seiji
authors.initials: S
authors.lastname: Kimura
mesh_terms: D000328:Adult; D004421:Dystonia / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D007818:Laryngeal Diseases / Q000209:etiology* / Q000473:pathology; D007830:Larynx / Q000473:pathology; D008297:Male; D014983:Xeroderma Pigmentosum / Q000150:complications* / Q000473:pathology