Abstract

MARTINEZ-GUZMAN, Oswaldo; HERNANDEZ-ABREGO, Marco Pedro  and  VILLANUEVA-MENDOZA, Cristina. Allgrove's syndrome: a case report. Bol. Med. Hosp. Infant. Mex. [online]. 2009, vol.66, n.1, pp.77-79. ISSN 1665-1146.

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.

Keywords : Adrenal gland hypofunction; adrenal insufficiency; achalasia; alacrima; Allgrove syndrome.

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