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AAA syndrome
Wednesday 16 May 2007
Allgrove syndrome associates achalasia, addisonianism, alacrima (OMIM 231550), It is an autosomal recessive disorder recently associated with the AAAS gene coding for the Aladin protein.
The pathophysiology of achalasia in Allgrove’s syndrome remains obscure.
Synopsis
fibrosis of the intermuscular plane
myenteric ganglia
Neuronal NO synthase absent
Etiology
The triple-A syndrome is caused by mutation in the gene encoding aladin (AAAS) (MIM.605378).
References
Khelif K, De Laet MH, Chaouachi B, Segers V, Vanderwinden JM. Achalasia of the cardia in Allgrove’s (triple A) syndrome: histopathologic study of 10 cases. Am J Surg Pathol. 2003 May;27(5):667-72. PMID: 12717251