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Syndrome d’Allgrove chez un patient aux antécédents de sténose hypertrophique du pylore. À propos d’un cas avec revue de littérature

Allgrove’s syndrome in patients with a previous history of hypertrophic pyloric stenosis. A case study and literature review

  • Cas Clinique / Case Report
  • Published:
Acta Endoscopica

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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Références

  1. Gordillo-González G, Guatibonza YP, Zarante I, Roa P, Jacome LA, Hani A. Achalasia familiar: report of a family with an autosomal dominant pattern of inherence. Dis Esophagus 2011;24:E1–E4.

    Article  PubMed  Google Scholar 

  2. Sarathi V, Shah NS. Triple-A syndrome. Adv Exp Med Biol 2010;685:1–8.

    Article  PubMed  CAS  Google Scholar 

  3. Palka C, Giuliani R, Brancati F, Mohn A, Di Muzio A, Calabrese O, et al. Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. Clin Genet 2010;77:298–301.

    Article  PubMed  CAS  Google Scholar 

  4. Troudi M, Mabrouk S, Chaouachi B, Amri F. Allgrove syndrome. Tunis Med 2009;87:304–306.

    PubMed  CAS  Google Scholar 

  5. Luigetti M, Pizzuti A, Bartoletti S, Houlden H, Pirro C, Bottillo I, et al. Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. J Neurol Sci 2010;290:150–152.

    Article  PubMed  CAS  Google Scholar 

  6. Houlden H. The small, spastic, and furrowed tongue of Allgrove syndrome. Neurology 2009;72:1366

    Article  PubMed  Google Scholar 

  7. Villanueva-Mendoza C, Martínez-Guzmán O, Rivera-Parra D, Zenteno JC. Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene. Ophthalmic Genet 2009;30:45–49.

    CAS  Google Scholar 

  8. Chang AJ, Kline MM, Currie Y, Perez MO, Hartiala J, Wijesuriya H, et al Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa. Clin Genet 2008;73:385–387.

    Article  PubMed  CAS  Google Scholar 

  9. Panteli C. New insights into the pathogenesis of infantile pyloric stenosis. Pediatr Surg Int 2009;25:1043–1052.

    Article  PubMed  Google Scholar 

  10. Chung E, Curtis D, Chen G, Marsden PA, Twells R, Xu W, et al Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis. Am J Hum Genet 1996;58:363–370.

    PubMed  CAS  Google Scholar 

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Correspondence to N. Lahmidani.

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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

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