165 ADRENOCORTICAL INSUFFICIENCY ASSOCIATED WITH ACHALASIA AND ALACRINA: VARIABILITY OF CLINICAL FINDINGS IN TWO CASES

Abstract

After the 4 patients reported by Allgrove in 1978, only few cases of the ACTH insensitivity, achalasia and alacrima syndrome have been described. Some clinical aspects of the disorder and its pathogenesis has not yet been clarified. Ne report 2 more patients to confirm the clinical entity of the syndro,e. Case 1 male patient, developed achalasia at age 2.5 yrs (Heller's myotomy was carried out) and after 1.5 yrs glucocorticoid deficiency (skin pigmentation, convulsions uith hypoglycaemia): ACTH>850 pg/ml, no response to ACTH test, normal aldosterone and PRA. Eyes apparently normal, but evidence of impaired tear production after Schiller test. Other features: muscular hypotrophy and hypotonia, foot orthopedic abnormalities. No findings in parents. Case 2 female with alacrima since birth; at age 3.5 diagnosis of adrenal deficiency was made (weakness, skin pigmentation, convulsions uith hypoglycaemia): ACTH levels ranging from 229 to 427 pg/ml, undetectable cortisol levels, urinary aldosterone less than normal. She has sligth dysphagia without radiological signs of achalasia. Isolated findings within faaily: alacrima in maternal grand - mother, elevated ACTH levels in mother's sister.Conclusions: our cases show the clinical variability of this syndrome; the presence of isolated achalasia, adrenocortical insufficiency or alacrima in a child warrants evaluation for the other components.