OBSTRUCTIVE SLEEP-APNEA SYNDROME IN ACID MALTASE DEFICIENCY

A patient with adult acid maltase deficiency (AMD) developed severe ob structive sleep apnea (OSA) and respiratory insufficiency. Weaning fai lure was followed by diffuse pneumonia and death. At autopsy, profound muscle replacement by fibrofatty tissue was noted in the tongue and d iaphragm, while the accessory and nonrespiratory muscles were variably preserved. To our knowledge, this case represents the first detailed clinical description of OSA associated with adult AMD. In addition, we suggest that severe tongue weakness due to fatty metamorphosis, in co ncert with macroglossia, provides a unique pathophysiologic mechanism for OSA.