triple-A syndrome

(redirected from AAA Syndrome)

triple-A syndrome

An autosomal recessive condition (OMIM:231550) characterised by glucocorticoid deficiency, achalasia of the gastric cardia, defective tear formation (alacrima) and often changes of autonomic dysfunction. Over time, many patients develop neurologic disease (e.g., polyneuropathy with sensory, motor and autonomic components; long-tract degeneration; parkinsonism; mild dementia).
References in periodicals archive ?
14,15 Recent studies have identified mutation in AAA syndrome of a candidate gene on chromosome 12 q 13 in these patients.
Since the first reported case of AAA syndrome in 1978, over 100 cases presenting with the clinical features of esophageal achalasia, alacrimia, and adrenal insufficiency have been described.
Osophagogastroduodenal graphy was taken considering that patients with adrenocorticotropic hormone resistance should also be evaluated in terms of AAA syndrome and moderate reflux was found in our patient.