Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome.

[triple a syndrome]

The triple A syndrome is characterized by the main features adrenal insufficiency , achalasia and alacrima . Other organ systems can be involved in a variable manner .We report clinical and novel molecular findings in a 6 .8 -year -old Kurdish boy , who presented with relapsing vomiting and failure to thrive . He was diagnosed as having achalasia and primary adrenocortical hypofunction . History and clinical examination showed that the boy was unable to produce tears . In addition , a large number of associated neurological and dermatological features was present in this patient . Thus , the clinical diagnosis of triple A syndrome was made .Initial molecular marker analysis supported linkage to the triple A critical region on chromosome 12 q 13 . Further , a homozygous G -->A transition in exon 9 of the newly identified AAAS gene , resulting in a stop codon (W 295 X ) and predicting a truncated protein with loss of function , confirmed the diagnosis . This new mutation was also detected in another family of Kurdish origin . In turned out that both families were related .