内分泌学とメタボリックシンドローム
オープンアクセス

概要

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

Maria L Hansen, Anja L Frederiksen and Claus B Juhl

Triple-A syndrome known as Allgroves syndrome classically present with: achalasia, alacrimia and adrenal insufficiency. Ataxia and autonomic dysfunction is additionally described in many cases. We present a case report of a young man of Pakistan origin with achalasia, alacrimia, adrenal insufficiency, ataxia and autonomic dysfunction. Genetic screening identified a novel mutation in the AAAS gene resulting in a homozygous point-mutation