OBJECTIVE: Allgrove syndrome is a rare autosomal recessive disorder 
characterized by the triad of adrenal insufficiency, achalasia and alacrima and 
many cases have multi-systems disorder: endocrine, gastrointestinal tract, eyes 
and nervous system. This syndrome is also known as 
achalasia-addisonianism-alacrima syndrome or triple A syndrome. Allgrove 
syndrome is now known to be caused by mutations of AAAS gene encoding the aladin 
protein. In the present paper, we report a Chinese mainland girl with Allgrove 
syndrome with mutations in the AAAS gene.
METHOD: The patient was a 7-year-old girl complained of coma and dark skin; she 
was treated as Addison disease for 2 years and had vomiting for 9 months before 
the second admission. Gene analysis was performed after extracting genomic DNA 
by amplification and sequencing of the specific fragments of AAA gene.
RESULTS: The patient was confirmed to have adrenal insufficiency at the age of 5 
years and 6 months. During the second hospitalization, she was found to have a 
remarkable brisk reflexion, bilateral optic nerve atrophy, alacrima and 
achalasia besides ACTH resistance. The girl was born to consanguineous parents. 
Based on these findings, she was diagnosed as having Allgrove syndrome. Mutation 
analysis revealed a novel homozygous deletion of a single G, c.771delG, in exon 
8 of the AAAS gene. This frame shift mutation was predicted to create a 
premature stop codon at locus 290, p.R258GfsX33, leading to a truncated and 
non-functioning aladin protein. Both the parents were heterozygous for the 
mutation.
CONCLUSION: The clinical manifestations and AAAS gene mutations analysis 
confirmed the diagnosis of Allgrove syndrome. Gene analysis indicated that this 
syndrome is an autosomal recessive inherent disorder. ALADIN is significant for 
the normal cell function. When compared with reported cases, it seems that there 
are no remarkable relation between gene mutation loci and clinical 
manifestations in Allgrove syndrome.