The otolaryngological manifestations of @entity2383 and the risk of XXXX with @entity281 .

@entity1 @entity2167 @entity3179 @entity14696 @entity281 @entity854 @entity179 @entity1729 @entity393 @entity528 @entity616 @entity2383
OBJECTIVE: To report the nature and extent of @entity393 and other @entity14696 in @entity1 with @entity2383 , and to document the risk of @entity179 with @entity281 . DESIGN: Medical chart review and telephone interview of 40 @entity1 with documented @entity2383 . SETTING: An international referral center for the diagnosis and management of @entity2383 . @entity1 : We describe 40 @entity1 with a definitive diagnosis of @entity2383 . Thirty-three (82%) were younger than 15 years. RESULTS: @entity393 was the most common clinical finding associated with @entity2383 . Twenty-eight (80%) of the 35 @entity1 undergoing testing had @entity393 or significant @entity2167 . In 20 (57%) of these, @entity616 were identified. Eight (30%) of the 27 @entity1 had an abnormal number of recurrent @entity1729 , and 4 (50%) of these had life-threatening or neurodegenerative sequelae. @entity2383 followed an episodic course, with periods of @entity3179 or slow developmental progress, punctuated by neurodegenerative events in 18 (60%) of 30 @entity1 . Intercurrent @entity281 was recognized as a precipitant of neurodegenerative events in 13 (72%) of 18 @entity1 with a history of @entity528 . CONCLUSIONS: @entity1 and adults with @entity2383 are at high risk for @entity393 and life-threatening complications of intercurrent infections. A constellation of @entity854 , multiorgan system involvement, and history of neuromuscular setbacks with @entity281 strongly suggests @entity2383 . Knowledge of these features can lead to more rapid diagnosis and improved medical and surgical management for this special group of @entity1 with fundamental defects in bioenergy metabolism.
