Allgrove syndrome (triple A syndrome) is a rare autosomal recessive disorder 
characterized by achalasia, alacrima, adrenal insufficiency, 
and--occasionally--autonomic instability. Disease causing mutations have been 
found in the AAAS gene on 12q13, but no strong phenotype-genotype correlation 
could be found. We present a 28 year-old woman with classical systemic features 
of triple A syndrome with prominent neurological dysfunctions/deficits, 
including distal muscular atrophy, progressive muscle weakness and wasting of 
both legs, sensibility dysfunction, hyperreflexia and autonomic dysfunction 
presented with excessive sweating. DNA sequencing of the AAAS gene revealed 
compound heterozygosity for previously reported mutations. A similar genotype 
was previously reported, but with a remarkably different phenotype.