AAA Syndrome in Progress

(redirected from AAA Syndrome)
A rare autosomal recessive condition of early onset characterised by alacrima, achalasia, autonomic disturbance and ACTH insensitivity, which usually presents in childhood with dysphagia or severe (occasionally fatal) episodes of hypoglycaemia or hypotension due to adrenocortical insufficiency, which itself may be delayed until adulthood. Adults with AAA syndrome, also known as Allgrove’s syndrome, may present with progressive neurologic disease including hyperreflexia, muscle wasting, dysarthria, ataxia, optic atrophy and intellectual impairment.
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References in periodicals archive ?
Allgrove's syndrome is an autosomal recessive disorder with varied presentations.14,15 Recent studies have identified mutation in AAA syndrome of a candidate gene on chromosome 12 q 13 in these patients.16 Prpic et al (2003) demonstrated marked phenotypic variability in three patients with genetically confirmed triple A syndrome.
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.19
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.