The triple A syndrome is a rare autosomal recessive disease that is 
characterised by the triad of adrenocorticotropin (ACTH)-resistant adrenal 
insufficiency, achalasia and alacrima. In most patients, neurological and 
dermatological abnormalities are associated features. We report on the first 
Bosnian patient with triple A syndrome. Endocrine investigation confirmed 
primary adrenal insufficiency at the age of 5.8 years. Two months later, 
achalasia was diagnosed, and in the presence of alacrima, the patient satisfies 
the diagnostic criteria of triple A syndrome. In addition, a large number of 
associated neurological and dermatological features were present in this 
patient. Moreover, he has dysmorphic facial features, which have not been 
previously described in triple A syndrome. Triple A syndrome was confirmed by 
molecular analysis, revealing a nonsense mutation p.W84X in the AAAS gene. The 
parents are both heterozygous carriers of the mutation. The affected twin 
brother unfortunately died from hypoglycaemic shock, despite a normal cortisol 
rise in an ACTH stimulation test. Further, triple A syndrome patients carrying 
the identical homozygous p.W84X mutation have to be studied to assess a 
genotype-phenotype relationship for this mutation.