AAA Syndrome, Case Report of a Rare Disease

S. Waqar H. Shah, Arshad K. Butt, K. Malik, Altaf Alam, Adnan Shahzad, Anwaar Ahmed Khan

Abstract


Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation. The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder).This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia. Abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, CT scan abdomen and brain, biochemical profiles, as well as neurologic and ophthalmic evaluations were consistent with Allgrove’s syndrome. Management consisted of pneumatic balloon dilatation for achalasia and initiation of cortisone therapy with successful resolution of dysphagia and other symptoms.

doi: https://doi.org/10.12669/pjms.336.13684

How to cite this:Shah SWH, Butt AK, Malik K, Alam A, Shahzad A, Khan AA. AAA Syndrome, Case Report of a Rare Disease. Pak J Med Sci. 2017;33(6):1512-1516.   doi: https://doi.org/10.12669/pjms.336.13684

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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