Triple A syndrome: two novel mutations in the AAAS gene.

[triple a syndrome]

Triple A syndrome is a rare disease of autosomal recessive inheritance . It was first described in 1978 . The typical triad includes adrenocorticotrophic-hormone-resistant glucocorticoid insufficiency , reduced or absent tearing (alacrima ) and achalasia . But clinical symptoms can be extremely heterogeneous and of variable clinically expression . This report describes a 7 -year -old boy with a 1 year history of fatigue and muscle weakness . Physical examination showed skin and mucosal hyperpigmentation , and hormonal analysis revealed isolated glucocorticoid function . Medical history was marked by megaoesophagus and achalasia . The absence of tears when crying had been noted since birth . In the presence of the classical triad , triple A syndrome was diagnosed . Clinical diagnosis was confirmed by molecular analysis of the AAAS gene on chromosome 12 q 13 . The novel compound heterozygous mutation c .1304 delA and c .1292 -1294 delTTCinsA was found .