Life-threatening vocal cord paralysis in a patient with group A xeroderma pigmentosum

Ohto, Tatsuyuki; Iwasaki, Nobuaki; Okubo, Hideki; Shin, Kenji; Matsui, Akira

doi:10.1016/j.pediatrneurol.2003.09.009

« Previous Next »Pediatric Neurology
Volume 30, Issue 3 , Pages 222-224, March 2004

Life-threatening vocal cord paralysis in a patient with group A xeroderma pigmentosum

Tatsuyuki Ohto, MD
- Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan
- Communications should be addressed to:Dr. Ohto; Department of Pediatrics; Institute of Clinical Medicine; University of Tsukuba; 1-1-1 Tennodai; Tsukuba, Ibaraki 305-8575; Japan.
Nobuaki Iwasaki, MD
- Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan
Hideki Okubo, MD
- Department of Otolaryngology, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan
Kenji Shin, MD
- Department of Pediatrics, Ibaraki Prefectural University of Health Sciences, Ami-cho, Ibaraki, Japan
Akira Matsui, MD
- Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan

Received 17 June 2003; accepted 4 September 2003.

Abstract

We report a 19-year-old male with group A xeroderma pigmentosum who presented life-threatening vocal cord paralysis. At 3 months of age, he became sensitive to sunlight, and at the age of 4 years he was diagnosed with group A xeroderma pigmentosum. The neurologic symptoms progressed slowly thereafter. From the age of 18 years, he reported the development of occasional episodic inspiratory stridor and dyspnea, but the cause remained unknown. At the age of 19, he had a common cold and became severely dyspneic and cyanotic. Immediate examination of the glottis upon arrival by an otorhinolaryngologist using a fibroscope indicated complete paralysis of both vocal cords, and tracheal intubation resulted in marked improvement of respiration. Tracheostomy was performed thereafter. Inspiratory stridor and dyspnea are the common symptoms in this disease, and some patients with group A xeroderma pigmentosum undergo a tracheostomy, but the pathogenesis remains unknown. To our knowledge, vocal cord paralysis has never been reported in patients with group A xeroderma pigmentosum. This case is presented to illustrate the importance of fibroscopy in the examination of vocal cords in patients with group A xeroderma pigmentosum before the development of life-threatening events.