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.
- muscle disease
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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.
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