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Triple A syndrome.

Lalit Bharadia¹, Mukesh Kalla, S K Sharma

¹Department of Medical Gastroenterology, S R Kalla Memorial Gastro and General Hospital, Jaipur. lalitbharadia@rediffmail.com

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology

|December 20, 2005

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Triple A syndrome, also known as Allgrove syndrome, is a rare genetic disorder. This case highlights a delayed diagnosis in an 11-year-old girl primarily presenting with achalasia.

Area of Science:

Endocrinology
Genetics
Pediatrics

Background:

Triple A syndrome (Allgrove syndrome) is an autosomal recessive disorder.
Characterized by the triad of achalasia, alacrima, and Addison insufficiency.

Observation:

An 11-year-old girl presented with achalasia as the predominant symptom.
Diagnosis of Triple A syndrome was significantly delayed, occurring nearly 3 years after initial presentation.

Findings:

The case underscores the variability in clinical presentation of Triple A syndrome.
Achalasia can be the leading symptom, potentially masking other components of the syndrome.

Implications:

Highlights the importance of considering rare genetic disorders in pediatric patients with complex symptoms.

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Emphasizes the need for increased awareness among clinicians for timely diagnosis of Triple A syndrome.

Early diagnosis is crucial for appropriate management and improved patient outcomes.