[Achalasia, alacrima without adrenal insufficiency with peripheral and autonomic neurological dysfunction (Allgrove's syndrome)]

Abstract

Objective: To present a patient with Allgrove's syndrome and peripheral and autonomic neurological dysfunction. This pathological entity has not been previously reported in national medical literature.

Background: Allgrove's syndrome is comprised of achalasia, alacrima and adrenal insufficiency. It is a rare disease. Some isolated cases have been informed in the literature. The most extensive series was published by Grant et al in 1993. In this study, 20 patients from various european countries were analyzed.

Method: We describe a patient with diagnosis suggestive of Allgrove's syndrome and expose the results of a review of the medical literature concerning this syndrome. We emphasize in neurological dysfunction of these patients. Such abnormalities are not actually well defined in this syndrome.

Results: A twelve-year-old male patient was admitted to the hospital for dysphagia. A diagnosis of achalasia was performed with endoscopy and esophagogram and confirmed with esophageal manometry. Physical examination showed alacrima and neurological dysfunction. Stimulation of adrenal function with ACTH (Cortosin) was normal. Neurologic examination revealed: peripheral neuropathy, autonomic dysfunction; corticospinal, psychomotor and intellectual impairment.

Conclusion: Allgrove's syndrome must be in mind in physicians who see children with achalasia. Nevertheless adrenal insufficiency is not always present in cases when diagnosis is performed. It may appear several years afterwards. Neurological dysfunction seems to be the most prominent feature.