A syndrome affecting both sexes characterised by adrenal insufficiency which is refractory to ACTH treatment and defective tear formation at birth, achalasia and autonomous neuropathy. Addisonian symptoms and achalasia may develop later in life. Inheritance is autosomal recessive with variable presentation.
In 1978, Allgrove and colleagues described 2 unrelated pairs of siblings with isolated glucocorticoid failure and achalasia of the oesophagus cardia. The latter condition involves delayed passage of food into the stomach and consequent dilation of the thoracic oesophagus. Three of these individuals also had defective tear production, leading the authors to speculate that the combination of achalasia, adrenal deficiency, and alacrima represented an inherited familial disorder.
- J. Allgrove, G. S. Clayden, D.B. Grant, et al:
Familial glucocorticoid deficiency with achalasia of the cardias and deficient tear production.
The Lancet, London, 1978, 1: 1284-1286.