Glucocorticoid deficiency with achalasia of the cardia and lack of lacrimation.
Four recent reports describe a multisystem disorder in which ACTH insensitivity is associated with achalasia and alacrima. We report studies on a male patient with this rare triad. The patient had alacrima from birth; isolated glucocorticoid deficiency had been diagnosed at 3.5 years of age and achalasia at age 6. The possibility that this syndrome could be due to a parasympathetic degeneration has already been proposed; the cause of the glucocorticoid deficiency, however, remains unclear. Parasympathetic function in other areas was investigated to determine whether there might be a more generalized abnormality. Specific cardiac tests of parasympathetic function showed that parasympathetic input to the heart was affected in the patient, while the same tests in an Addisonian child were normal. We show, then, a hitherto undetected parasympathetic abnormality in a patient with this syndrome, suggesting a generalized disturbance of this system. On this basis we may hypothesize that the glucocorticoid failure may be a consequence of the loss of parasympathetic input to the adrenal gland, although this remains to be demonstrated experimentally.
D000109:Acetylcholine / Q000378:metabolism; D000311:Adrenal Glands / Q000294:innervation; D002675:Child, Preschool; D004931:Esophageal Achalasia / Q000209:etiology*; D005938:Glucocorticoids / Q000172:deficiency*; D006321:Heart / Q000294:innervation; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000209:etiology*; D008297:Male; D009422:Nervous System Diseases / Q000150:complications* / Q000378:metabolism / Q000503:physiopathology; D010275:Parasympathetic Nervous System / Q000503:physiopathology; D013564:Sympathetic Nervous System / Q000503:physiopathology; D013577:Syndrome
D005938:Glucocorticoids; D000109:Acetylcholine