Obstructive sleep apnea syndrome in acid maltase deficiency.

A patient with adult acid maltase deficiency (AMD) developed severe obstructive sleep apnea (OSA) and respiratory insufficiency. Weaning failure was followed by diffuse pneumonia and death. At autopsy, profound muscle replacement by fibrofatty tissue was noted in the tongue and diaphragm, 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 concert with macroglossia, provides a unique pathophysiologic mechanism for OSA.