Allgrove syndrome (or triple-A syndrome) is a rare autosomal recessive disorder 
characterized by alacrima, achalasia, adrenal insufficiency (glucocorticoid in 
the majority of cases) and autonomic/neurological abnormalities. This disease is 
now known to be caused by mutation in the AAAS gene located on chromosome 12q13. 
Diagnosis should be readily available when the full-blown features are there, 
but it becomes less apparent when presentation is atypical or in the evolving 
process. We present a brother and sister (12 and 19 y old, respectively) born to 
consanguineous parents of Palestinian origin with Allgrove syndrome. The index 
patient was erroneously diagnosed to be a case of familial dysautonomia before 
the diagnosis of adrenal insufficiency was made at the age of 7.5 y, while his 
elder sister had only alacrima from birth and developed achalasia at the age of 
15 y. She started to develop early evidence of adrenal disease at the age of 19 
y. Both of them had neuroautonomic dysfunction. The diagnosis of Allgrove 
syndrome was confirmed in these two patients by studying the gene mutation in 
the family. The sequencing of the AAAS gene in the two patients identified a 
novel homozygous mutation within intron 5 (IVS5+1G-->A). Both parents as well as 
all three other children were heterozygous for the same mutation.
CONCLUSION: These two cases illustrate the heterogenous nature and the 
intrafamilial phenotypic variability of Allgrove syndrome.