title: Progressive dysautonomia in two patients with xeroderma pigmentosum group A.
abstract: BACKGROUND
  Xeroderma pigmentosum group A (XPA) is a rare autosomal-recessive disorder caused by a defect in nucleotide excision repair. Progressive dysautonomia in patients with XPA is rarely described.
  
  
  METHODS
  Two juvenile male patients with XPA suffered from dysphagia, sleep interruption, and dysuria from the age of 10 to 19 years, successively. These autonomic symptoms might have been caused by progressive descending degeneration of cranial nerves IX and X and the sacral parasympathetic nerve, including Onuf's nucleus. One patient died from sudden cardiopulmonary arrest during postural change and tracheal suction.
  
  
  RESULTS
  Heart rate variability analyses of these patients revealed parasympathetic dysautonomia, based on decreased high-frequency values.
  
  
  CONCLUSIONS
  The insidiously progressive dysautonomia in these two patients with XPA suggested progressive descending degeneration extending from the medulla oblongata to the sacral spinal cord, which is an ominous sign of end-stage disease and a risk factor of sudden death attributable to XPA.
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan. Electronic address: o-kobayashi@oita-u.ac.jp.
authors.forename: Osamu
authors.initials: O
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Miyahara
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Naho
authors.initials: N
authors.lastname: Abe
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Chika
authors.initials: C
authors.lastname: Goto
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Okanari
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Kensuke
authors.initials: K
authors.lastname: Akiyoshi
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Seigo
authors.initials: S
authors.lastname: Korematsu
authors.affiliation: Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Izumi
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D018450:Disease Progression; D017809:Fatal Outcome; D006339:Heart Rate; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D054969:Primary Dysautonomias / Q000473:pathology / Q000503:physiopathology*; D014983:Xeroderma Pigmentosum / Q000473:pathology / Q000503:physiopathology*; D055815:Young Adult
keywords: dysautonomia; dysphagia; gastroesophageal reflux disorder; heart rate variability; neurogenic bladder; vagal reflex; xeroderma pigmentosum group A