Résumé
Le syndrome d’Allgrove est une affection autosomique récessive rare associant alacrymie, achalasie et insuffisance surrénalienne. Cette entité est souvent associée à des désordres neurologiques. Récemment, la mutation du gène candidat AAAS au niveau du chromosome 12q13 a été identifiée. Nous rapportons l’observation d’un jeune patient opéré à l’âge d’un an d’une sténose hypertrophique du pylore chez qui, 21 ans plus tard, le diagnostic de syndrome d’Allgrove est posé lors du bilan d’une achalasie. Le syndrome des 3A devrait être suspecté chez tout jeune patient ayant une achalasie et une insuffisance surrénalienne.
Abstract
Allgrove’s syndrome is a rare, recessive autosomal condition, associated with alacrima, achalasia and adrenal insufficiency. It is also often associated with neurological disorders. Recently, mutation of the AAAS candidate gene on chromosome 12q13 has been identified.We are reporting the observation made on a young patient, operated on at the age of one for hypertrophic pyloric stenosis, who twenty years later was diagnosed with Allgrove’s syndrome during a check-up for achalasia. Triple-A syndrome should be suspected in all young patients presenting with achalasia and adrenal insufficiency.
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Lahmidani, N., El Yousfi, M., Benajah, D. et al. Syndrome d’Allgrove chez un patient aux antécédents de sténose hypertrophique du pylore. À propos d’un cas avec revue de littérature. Acta Endosc 42, 52–53 (2012). https://doi.org/10.1007/s10190-011-0225-1
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DOI: https://doi.org/10.1007/s10190-011-0225-1