AAA syndrome--adrenal insufficiency, alacrima and achalasia

Abstract

An 8-year-old girl presented with a hypoglycaemic seizure and dark cutaneous pigmentation (Figure 1A and B). Response to synacthen stimulation was inadequate and adrenocorticotropic hormone (ACTH) was elevated [basal cortisol 174 nmol/l, stimulated cortisol 173 nmol/l (reference range >500 nmol/l), ACTH 2980 ng/l (reference range <55 ng/l)]. However renin, aldosterone and electrolytes were normal. She had no postural drop in blood pressure. She was commenced on hydrocortisone resolving her pigmentation. A Schirmer's test (Figure 1C) shows no tear production, consistent with …