TITLE

Síndrome de Allgrove: reporte de un caso

AUTHOR(S)
Martínez-Guzmán, Oswaldo; Hernández-Abrego, Marco Pedro; Villanueva-Mendoza, Cristina
PUB. DATE
January 2009
SOURCE
Boletin Medico del Hospital Infantil de Mexico;ene/feb2009, Vol. 66 Issue 1, p76
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
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, achatasia 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.
ACCESSION #
40089374

 

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