Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene.

[triple a syndrome]

We report on the first Chinese patient with triple-A syndrome , who presented at 22 months with status epilepticus secondary to hyponatraemia and hypoglycaemia . Subsequent endocrine investigations confirmed primary adrenal insufficiency and aldosterone deficiency . In the presence of achalasia and alacrima , this patient satisfies the diagnostic criteria of triple-A syndrome . Further molecular testing detected compound heterozygous mutations in the AAAS gene : a c .580 C --> T transition in exon 7 and a c .771 delG single nucleotide deletion in exon 8 . Testing of parents and brother confirmed their heterozygous carrier status .