Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.

[triple a syndrome]

Triple A syndrome is a rare autosomal recessive disease characterized by achalasia , alacrima , adrenocorticotrophic hormone resistant adrenal failure and some neurologic abnormalities . We report a nine year old patient with alacrima , optic atrophy and achalasia with mutation in the AAAS gene .PCR amplification of the complete coding sequence as well as the exon-intron junctions of AAAS gene was performed in DNA from the patient and his parents .A AAS gene analysis demonstrated a homozygous A to G mutation at nucleotide position 122 in exon 1 in DNA from the patient .The novel mutation described confirms the diagnosis .