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Endocrinology
Two siblings with triple A syndrome
  1. Swaraj Waddankeri1,
  2. Meenakshi Waddankeri2 and
  3. Kshitij Arora3
  1. 1Division of Diabetes and Endocrinology, Department of Medicine, Mahadevappa Rampure Medical College, Kalaburagi, Karnataka, India
  2. 2Department of Paediatrics, Mahadevappa Rampure Medical College, Kalaburagi, Karnataka, India
  3. 3Department of Medicine, Mahadevappa Rampure Medical College, Kalaburagi, Karnataka, India
  1. Correspondence to Dr Swaraj Waddankeri; swaraj_amit{at}yahoo.com

Abstract

Triple A syndrome is a rare autosomal recessive disorder presenting as adrenal insufficiency, achalasia and alacrima, often accompanied by neurological complications. We present the cases of two siblings, a girl (patient 1) and a boy (patient 2) in their early adolescence, born from a consanguineous marriage. At the age of 4, patient 1 developed progressive dysphagia when consuming both solid and liquid foods, while patient 2 began displaying abnormal gait by 2 years. Both siblings were confirmed to have alacrima and achalasia. Endocrinological assessments unveiled adrenal insufficiency and resistance to adrenocorticotropin hormone, and genetic analysis revealed a homozygous pathogenic variant of the achalasia-adrenal insufficiency-alacrima syndrome gene. Clinical suspicion of triple A syndrome and early investigation on onset of alacrima are essential for prompt diagnosis and management.

  • Endocrinology
  • Adrenal disorders
  • Thyroid disease

https://doi.org/10.1136/bcr-2024-260582

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    Footnotes

    • X @Dr_SwarajSW

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: SW: conceptualisation, investigation results, original draft preparation, critical revision for important intellectual content. MW: investigation results, drawing original diagrams, critical revision for important intellectual content. KA: investigation results, sourcing of clinical images, critical revision for important intellectual content. The following authors gave final approval of the manuscript: SW, MW and KA. SW is responsible for the overall content as guarantor.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.