BACKGROUND: 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.
PATIENT: 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.
RESULTS: Initial molecular marker analysis supported linkage to the triple A 
critical region on chromosome 12q13. Further, a homozygous G -->A transition in 
exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) 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.