Abstract

Addison’s disease is a rare entity, with an incidence of 0.8–1.4 cases/1 00 000 inhabitants/year in the general population. It may occur alone or as part of autoimmune polyglandular syndromes.

We describe the case of a 6-year-old boy, previously healthy, observed in the emergency room due to sporadic postprandial vomiting, asthenia and headache with 2 months of evolution. Parental notion of alteration of cutaneous coloration with 3 weeks of evolution and onset of polydipsia and polyuria. Physical examination showed dry lips, sunken eyes and cutaneous-mucous hyperpigmentation, more noticeable at the gingival level. He presented moderate hyponatremia (120 mmol/L), hypochloremia and hyperkalemia (5.49 mmol/L), glucose 64 mg/dl and increase of serum urea (70 mg/dl). Subsequently, hypocortisolemia (3.6 ug/dl) and hypoaldosteronism (18.4 pg/mL) were observed, with increased ACTH (913 pg/ml) and renin. The value of 17α-OH-progesterone was normal, suggesting acquired primary adrenal insufficiency. Abdominal CT and renal and adrenal echography showed no alterations. Initiated fluid therapy and intravenous hydrocortisone bolus, with subsequent transition to oral maintenance therapy. In the maintenance phase oral fludrocortisone was associated. The positivity of the anti-adrenal autoantibodies confirmed the diagnosis of autoimmune Addison’s disease.

The diagnosis of the acute adrenal crisis requires a high degree of suspicion, given the initial clinical lack of specificity, and the early institution of treatment is fundamental for a favourable evolution. It is a cause of dehydration to consider, especially in situations of hyponatremia associated with hypercalcaemia and hypoglycemia, with cutaneous-mucous hyperpigmentation being a highly suggestive finding.