Article
Allgrove syndrome with amyotrophy.
Practical neurology - 1 Jun 2022
Soares Míriam Carvalho, Lins Otávio Gomes, Lima de Carvalho José Ronaldo, de Sá Cláudia Cristina, Van der Linden Vanessa, Covaleski Anna Paula Paranhos Miranda
Abstract excerpt
Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the AAAS gene. It has variable clinical features but its cardinal features comprise the triad of achalasia, alacrimia and adrenal insufficiency. It typically develops during the first decade of life, but some cases have second and third decades onset. We describe a 25-year-old woman with Allgrove syndrome who had progressive...
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