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 insufficiency, 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 confirmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before