Martínez-Guzmán O, Hernández-Abrego MP, Villanueva-Mendoza C

Language: Spanish
References: 10
Page: 76-79
PDF size: 137.16 Kb.

ABSTRACT

Introduction. Allgrove syndrome, also known as Triple A syndrome, is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. Allgrove described siblings with isolated glucocorticoid failure, achalasia and defective tear production. It has also been associated with some neurologic abnormalities and there is a variable clinical presentation. The Triple A gene was identified by Tullio-Pullet et al and it is responsible for the production of a protein called ALADIN.
Case report. We report a 7 years old patient with alacrima, optic atrophy and achalasia. Until now he has not had adrenal insufficiency.
Conclusion. This entity is rare, some of the symptoms appear later in the development of the disease, including neurologic abnormalities and adrenal insufficiency. The ophtalmologist and the pediatrician must consider it in patients with alacrima or acalasia.

REFERENCES

1. Shah A, Shah A. Esophageal achalasia and alacrima in siblings. Indian Pediatr. 2006; 43: 161-3.

2. Bharadia L, Kalla M, Sharma SK, Charan R, Gupta JB, Khan F. Triple A syndrome. Indian J Gastroenterol. 2005; 24: 217-8.

3. Mullaney PB, Weatherhead R, Millar L, Ayyash II, Ayberk H, Cai F, et al. Keratoconjunctivitis sicca associated with achalasia of the cardia, adrenocortical insufficiency, and lacrimal gland degeneration. Ophthalmology. 1998; 105: 643-50.

4. Sellami D, Bouacida W, Frikha F, Triki C, Ben Zina Z, Ben Salah S, et al. Syndrome d’Allgrove: a propos d’une famille. J Fr Ophthalmol. 2006; 29: 418-21.

5. Babu K, Murthy KR, Babu N, Ramesh S. Triple A syndrome with ophthalmic manifestations in two siblings. Indian J Ophthalmol. 2007; 55: 304-6.

6. Prpic I, Huebner A, Persic M, Handschug K, Pavietic M. Triple A syndrome: Genotype. Phenotype assessment. Clin Genet. 2003; 63: 415-7.

7. Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos SG, et al. Genotypic heterogeneity and clinical phenotype in triple A syndrome: A review of the NIH experience 2000-2005. Clin Genet. 2005; 68: 215-21.

8. Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: A case report. BMC Ophthalmol. 2004; 4: 1-7.

9. Tullio-Pullet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, et al. Mutant W-D repeat protein in triple A syndrome. Nat Genet. 2000; 26: 332-5.

10. Pedreira CC, Zacharin MR. Allgrove syndrome: When a recognizable paediatric disorder occurs in adulthood. MJA. 2004; 180: 74-5.