Palatopharyngeal incompetence in association with esophageal dysmotility, acquired glucocorticoid deficiency, and deficient tear production.
An 8 1/2-year-old male is described with the rare triad of acquired adrenal insufficiency, esophageal dysfunction, and alacrima. In addition, he had velopharyngeal insufficiency, which is a previously unreported feature of this syndrome. Although the pathophysiology of this disorder remains to be demonstrated, a defect may be present, linking hormone-receptor cyclic AMP-mediated processes with abnormalities in parasympathetic and voluntary neuronal innervation or transmission.
D002648:Child; D003348:Cortisone / Q000031:analogs & derivatives / Q000627:therapeutic use; D004935:Esophageal Diseases / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology*; D005938:Glucocorticoids / Q000172:deficiency*; D006801:Humans; D007766:Lacrimal Apparatus Diseases; D008297:Male; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000188:drug therapy
D005938:Glucocorticoids; D003348:Cortisone