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Joseph L. Edmonds, MD; Daniel J. Kirse, MD; Donald Kearns, MD; Reena Deutsch, PhD; Liesbeth Spruijt, MD; Robert K. Naviaux, MD, PhD

Arch Otolaryngol Head Neck Surg. 2002;128:355-362.

Objective  To report the nature and extent of hearing loss and other otolaryngological problems in patients with mitochondrial disease, and to document the risk of neurodegeneration with infection.

Design  Medical chart review and telephone interview of 40 patients with documented mitochondrial disease.

Setting  An international referral center for the diagnosis and management of mitochondrial disorders.

Patients  We describe 40 patients with a definitive diagnosis of mitochondrial disease. Thirty-three (82%) were younger than 15 years.

Results  Hearing loss was the most common clinical finding associated with mitochondrial disease. Twenty-eight (80%) of the 35 patients undergoing testing had hearing loss or significant auditory dysfunction. In 20 (57%) of these, brainstem conduction abnormalities were identified. Eight (30%) of the 27 patients had an abnormal number of recurrent upper respiratory tract infections, and 4 (50%) of these had life-threatening or neurodegenerative sequelae. Mitochondrial disease followed an episodic course, with periods of stasis or slow developmental progress, punctuated by neurodegenerative events in 18 (60%) of 30 patients. Intercurrent infection was recognized as a precipitant of neurodegenerative events in 13 (72%) of 18 patients with a history of episodic degeneration.

Conclusions  Children and adults with mitochondrial disorders are at high risk for hearing loss and life-threatening complications of intercurrent infections. A constellation of audiologic abnormalities, multiorgan system involvement, and history of neuromuscular setbacks with infection strongly suggests mitochondrial disease. Knowledge of these features can lead to more rapid diagnosis and improved medical and surgical management for this special group of patients with fundamental defects in bioenergy metabolism.

From the Departments of Otolaryngology, Children's Hospital, San Diego, Calif (Drs Edmonds and Kearns); University of Kansas Medical Center, Kansas City (Dr Kirse); and the Departments of Family and Preventive Medicine (Dr Deutsch), Pediatrics (Dr Spruijt), and Medicine (Dr Naviaux), University of California–San Diego. Dr Edmonds is now with the Department of Otolaryngology, Texas Children's Hospital, Houston; Dr Spruijt is now with the Department of Clinical Genetics, Academic Hospital, Maastricht, the Netherlands.

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