Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.

[triple a syndrome]

Allgrove syndrome (or triple A syndrome ) is a rare autosomal recessive disorder characterized by alacrima , achalasia , ACTH-resistant adrenal insufficiency and autonomic /neurological abnormalities . It is caused by mutations in the AAAS gene , located on chromosome 12 q 13 . We describe a 42 -year -old patient who presented with neuropathy and was found to have alacrima , achalasia , mild autonomic dysfunction with significant central and peripheral nervous system involvement . She was later diagnosed with oligosymptomatic triple A syndrome . Sequencing of the AAAS gene identified two heterozygous mutations within exon 14 and its donor splice site (p .L 430 F-c .1288 C >T and c .1331 +1 G >T ), one of which is novel . Allgrove syndrome should be suspected in patients with neurological impairment associated with two or more of the main symptoms (alacrima , achalasia or adrenal insufficiency ).