Triple A syndrome presenting with myopathy: An Egyptian patient

Abstract

Triple A syndrome (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by Adrenocorticotropic hormone resistant adrenal insuffi ciency, Alacrmia, Achalasia of the oesophageal cardia, progressive neurological degeneration and occasionally autonomic instability (making it 4A syndrome). Reported neurological abnormalities included developmental delay, ataxia and polyneuropathy with sensory, motor and autonomic components, long-tract degeneration, parkinsonism and mild dementia.
In this paper we report a 13 year old boy with Allgrove syndrome presenting
with muscular weakness that was confi rmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before.

Keywords: Allgrove syndrome, triple A syndrome, alacrmia, cardiac achalasia, adrenal insufficiency.