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Allgrove syndrome with amyotrophy
  1. Míriam Carvalho Soares1,
  2. Otávio Gomes Lins1,
  3. José Ronaldo Lima de Carvalho2,
  4. Cláudia Cristina de Sá3,
  5. Vanessa Van der Linden4,
  6. Anna Paula Paranhos Miranda Covaleski1
  1. 1Neurology Department, Hospital das Clínicas de Pernambuco, Recife, Brazil
  2. 2Ophthalmology Department, Hospital das Clínicas de Pernambuco Recife, Recife, Brazil
  3. 3Gastroenterology Department, Universidade de Pernambuco, Recife, Brazil
  4. 4Rarus – Serviço de Referência em Doenças Raras, Recife, Brazil
  1. Correspondence to Dr Míriam Carvalho Soares, Neurology Department, Hospital das Clínicas, Recife, Pernambuco, Brazil; miriamcarvalhosoares{at}icloud.com

Abstract

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 amyotrophy, achalasia, dry eyes and adrenal insufficiency since childhood. Awareness of its neurological manifestations and multisystem features helps to shorten the time for diagnosis and allow appropriate symptomatic treatment.

  • neurogenetics
  • neuropathy
  • muscle disease

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Footnotes

  • Contributors APPMC contributed to first draft and review of the manuscript. CCdS contributed to data collection and review of the manuscript. JRLdC contributed to review of the manuscript and patient initial clinical assessment. VVdL contributed to review of the manuscript. OGL contributed to data collection. MCS contributed to data collection, first draft and review of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed by Martin Turner, Oxford, UK.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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