González-Rodríguez RI, Serrano-Mendoza M, Montiel-Jarquín ÁJ, Alvarado-Ortega I, Barragán-Hervella RG

Language: Spanish
References: 9
Page: 16-19
PDF size: 903.61 Kb.

ABSTRACT

Background: Allgrove syndrome was described in 1978, it is an autosomal recessive disorder characterized by the triple A: Achalasia, Alacrima and Adrenal insufficiency. The AAAS is the altered gene encoding the protein ALADIN.
Case report: A 17 years old female, who presented alacrima corneal ulcers at 18 month, hyperpigmentation areas, and ACTH levels in 2.1 g / d, basal cortisol of 3.6 mg/dl. At 5 years old she showed adrenal hypogenesia, electromyography reported axonal motor type neuropathy. At 7 years old, she began with seizure, dysphagia to solids, barium esophagogram reported lower esophageal dilation, esophageal manometry confirmed increased pressure of the lower esophageal sphincter, aperistalsis, and esophageal body incomplete relaxation. Heller cardiomyotomy and partial anterior fundoplication laparoscopically was performed, showing clinical improvement.
Discussion: Allgrove Syndrome is a disease that will appear in early childhood, present with alacrima, achalasia and adrenal insufficiency. This coincides with what is presented in this patient; steroids are the medical treatment and achalasia must be resolved by surgery, with good results

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