Triple-A syndrome

This article is about the congenital endocrine and muscular disorder. For the vascular condition, see Abdominal aortic aneurysm.
Triple A syndrome
Other namesAchalasia–addisonianism–alacrima syndrome or Allgrove syndrome[1]
MRI of the brain of 12-year-old boy with triple-A syndrome showing hypoplastic lacrimal glands (yellow arrows)
SpecialtyEndocrinology Edit this on Wikidata

Triple-A syndrome or AAA syndrome is a rare autosomal recessive congenital disorder. In most cases, there is no family history of AAA syndrome.[2] The syndrome was first identified by Jeremy Allgrove and colleagues in 1978; since then just over 100 cases have been reported.[3] The syndrome is called Triple-A due to the manifestation of the illness which includes achalasia (a dysfunction of the esophagus), addisonianism (adrenal insufficiency of primary type), and alacrima (insufficiency of tears). Alacrima is usually the earliest manifestation.[4] Neurodegeneration or atrophy of the nerve cells and autonomic dysfunction may be seen in the disorder; therefore, some have suggested the disorder be called 4A syndrome.[5] It is a progressive disorder that can take years to develop the full-blown clinical picture.[6] The disorder also has variability and heterogeneity in presentation.[7]

  1. ^ Online Mendelian Inheritance in Man (OMIM): 231550
  2. ^ Dusek T, Korsic M, Koehler K, Perkovic Z, Huebner A, Korsic M (2006). "A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome". Hormone Research. 65 (4): 171–176. doi:10.1159/000092003. PMID 16543750. S2CID 36128858.
  3. ^ Gazarian M, Cowell CT, Bonney M, Grigor WG (January 1995). "The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities". European Journal of Pediatrics. 154 (1): 18–23. doi:10.1007/BF01972967. PMID 7895750. S2CID 8904441.
  4. ^ Bharadia L, Kalla M, Sharma SK, Charan R, Gupta JB, Khan F (2005). "Triple A syndrome". Indian Journal of Gastroenterology. 24 (5): 217–218. PMID 16361769.
  5. ^ Tibussek D, Ghosh S, Huebner A, Schaper J, Mayatepek E, Koehler K (January 2018). ""Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports". BMC Pediatrics. 18 (1): 6. doi:10.1186/s12887-017-0973-y. PMC 5769402. PMID 29334914.
  6. ^ Cite error: The named reference aaagp was invoked but never defined (see the help page).
  7. ^ Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, et al. (September 2005). "Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005". Clinical Genetics. 68 (3): 215–221. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009. S2CID 20404052.