Achalasia-Alacrima Syndrome

The adrenocorticotropic hormone (ACTH) insensitivity syndrome is an inherited disorder, but in a small minority it is an acquired abnormality induced by the formation of antibodies that block ACTH receptors. In contrast to Addison syndrome, the renin-angiotensin-aldosterone axis functions normally.

Double A Syndrome; Adrenocorticotropic Insensitivity Syndrome.

Autosomal recessive. Consists of several rare disorders with absent or markedly impaired adrenal response to ACTH. Most likely a variant of the Allgrove syndrome as shown by haplotype analysis.

Dysfunction or absence of ACTH receptors caused by a genetic defect or an acquired anomaly that induces formation of antibodies that block ACTH receptors.

Based on the clinical findings of absent tears, dysphagia, and failure to thrive in infancy.

Absent tears in combination with achalasia. The disorder must be differentiated from Allgrove or Triple A Syndrome (achalasia, alacrima, ACTH deficiency). Autonomic dysfunction has been reported as evidenced by electrophysiologic studies. Megaesophagus may occur.

Check serum concentrations of electrolytes (mineralocorticoid deficiency), blood glucose, and ACTH. Obtain a history of vomiting, reflux, and dysphagia. Check for signs of autonomic dysfunction.

A rapid sequence induction technique is recommended because of the increased risk for gastroesophageal reflux. The likelihood of corneal abrasions is increased because of lack of tears. Possibility exists for autonomic dysfunction and cardiovascular instability in the absence of ACTH receptors.

No known specific implication with this condition.

Allgrove Syndrome: Inherited disease characterized by the triad of ACTH-resistant insufficiency, achalasia, and alacrima. It presents in the first decade of life with severe hypoglycemic episodes that may result in death. A mixed pattern of upper and lower motor neuropathy, sensory impairment, autonomic neuropathy, and mental retardation has been described.