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Two siblings with triple A syndrome.

Swaraj Waddankeri¹, Meenakshi Waddankeri², Kshitij Arora³

¹Division of Diabetes and Endocrinology, Department of Medicine, Mahadevappa Rampure Medical College, Kalaburagi, Karnataka, India swaraj_amit@yahoo.com.

BMJ Case Reports

|November 27, 2024

Summary

Triple A syndrome, a rare genetic disorder, affects adrenal function, esophagus motility, and tear production. Early diagnosis of achalasia-adrenal insufficiency-alacrima syndrome is crucial for managing neurological complications.

Keywords:

Adrenal disorders Endocrinology Thyroid disease

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Area of Science:

Genetics and rare diseases
Pediatric endocrinology
Gastroenterology

Background:

Triple A syndrome (Allgrove syndrome) is a rare autosomal recessive disorder.
It is characterized by the triad of adrenal insufficiency, achalasia, and alacrima, often with neurological symptoms.

Observation:

Two siblings from a consanguineous marriage presented with overlapping symptoms of Triple A syndrome.
Patient 1 developed dysphagia at age 4; Patient 2 showed an abnormal gait at age 2.
Both siblings exhibited alacrima, achalasia, adrenal insufficiency, and ACTH resistance.

Findings:

Genetic analysis revealed a homozygous pathogenic variant in the achalasia-adrenal insufficiency-alacrima syndrome gene (AAAS gene).
The findings confirm the genetic basis of the disorder in the affected siblings.

Implications:

Early clinical suspicion and investigation of alacrima are vital for timely diagnosis of Triple A syndrome.
Prompt management can help mitigate potential neurological complications associated with the condition.