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The Otolaryngological Manifestations of Mitochondrial Disease and the Risk of Neurodegeneration With Infection
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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ABSTRACT
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