Late onset adrenal insufficiency and achalasia in Allgrove syndrome.

To cite: Thomas J, Subramanyam S, Vijayaraghavan S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014208900 DESCRIPTION A 26-year-old man presented with progressive difficulty in swallowing for 2 years and increased skin pigmentation for 1 year. This was associated with a loss of weight despite a preserved appetite. He had a lack of tears since childhood. His parents had a second-degree consanguineous marriage and had four sons. Examination was normal except for increased pigmentation over his lips (figure 1) and around his joints (figure 2). His pulse rate was normal; he had asymptomatic postural hypotension (supine 90/70 mm Hg, standing 56/46 mm Hg). Routine blood results including thyroid function were also normal. A barium study showed dilation of the oesophagus with abrupt narrowing at the gastro-oesophageal junction (figure 3). Oesophageal manometry showed an elevated lower oesophageal sphincter pressure (47.2 mm Hg), with absent relaxation to swallow and aperistalsis, consistent with achalasia cardia. Fasting serum cortisol was 1.1 mg/dL (normal 5–25 mg/dL); 60 min after an intravenous injection of adrenocorticotropic hormone (ACTH) (250 mg), it only increased to 1.2 mg/dL (normal increment is>9 mg/dL from baseline), indicating adrenal insufficiency. (It is likely that the patient had primary adrenal failure with excess ACTH leading to an increase in skin pigmentation.) ACTH was not measured as skin hyperpigmentation is not a feature of secondary adrenal failure. Schirmer’s test for lacrimation showed total absence of tears. The presence of alacrimia, achalasia and primary adrenal insufficiency corresponded with a diagnosis of Allgrove syndrome. Upper gastrointestinal endoscopy was performed for pneumatic dilation. The patient received steroid replacement with oral hydrocortisone. A complete recovery from dysphagia was observed in a week. The postural fall in blood pressure normalised after 3 weeks of steroid therapy. The patient’s 36-year-old brother also had absent lacrimation, dysphagia, skin pigmentation