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 ?

In order to facilitate the diagnosis, after the first report of triple-A syndrome, cases with typical triad (adrenal insufficiency, alacrimia and achalasia) were described.

Up-to-date, the genetic studies demonstrated two leading mutations related to triple-A syndrome: an IVSC14 + 1 G-A mutation and a R155P mutation in exon 6.

Triple-A syndrome, also known as achalasia-addisonianism-alacrimia syndrome or Allgrove syndrome, is a rare autosomal and life-threatening congenital progressive disorder.

Ocular problems in triple-A syndrome and their management/Triple A sendromlu bir olgudaki goz problemleri ve tedavi yaklasimi