Skeletal muscle weakness and dysphagia caused by acid maltase deficiency: nutritional consequences of coincident celiac sprue.

摘要

BACKGROUND: A 30-year-old woman with celiac sprue had progressive weight loss, myalgia, limb-girdle weakness, and dysphagia. METHODS AND RESULTS: Barium swallow showed an atonic esophagus, and scintigraphic study confirmed esophageal dysmotility. Skeletal muscle biopsy showed characteristic appearances of acid maltase deficiency, which was confirmed by a reduction of leukocyte acid alpha-glucosidase activity. CONCLUSIONS: Nutritional factors may have accelerated the presentation of the lysosomal storage disorder. This is the first reported case of dysphagia caused by esophageal motor weakness in acid maltase deficiency.