Pediatric triple-A syndrome: Clinical presentation, challenges, and management

Abstract

Background

The precise incidence or prevalence rate of Triple-A syndrome can vary depending on the population being studied. The incidence may be higher in certain populations, such as those with a higher rate of consanguinity (marriage between close relatives). However, globally, the syndrome is thought to affect less than 1 in 1 million persons.

Case presentation

An eight-year-old Pakistani child presented with fever, vomiting, lightheadedness, and signs of adrenal insufficiency, including hyperpigmentation, hypotension, low sodium, high potassium, and low blood sugar. He was diagnosed with Triple-A syndrome, which also included alacrima and achalasia, confirmed by the "bird beak" sign on an esophogram. A urinary tract infection triggered the child’s Addisonian crisis. He was treated with antibiotics, supportive care, hydrocortisone, proton pump inhibitors for gastric ulcers, and endoscopic balloon dilation for esophageal stricture. After long-term glucocorticoid and mineralocorticoid therapy, he recovered and was discharged.

Discussion

This instance highlights the challenges in diagnosing and managing Triple-A syndrome, emphasizing the importance of early detection of key symptoms like Addisonian crisis. Effective care necessitates multidisciplinary collaboration and prompt treatment. Furthermore, the case underscores the critical need for patient education and adherence to medication, especially in areas with limited access to healthcare facilities.

Conclusion

Triple-A syndrome, though rare, must be considered in individuals exhibiting alacrima, achalasia, and adrenal insufficiency. Early detection, comprehensive treatment plans, and continuous monitoring are essential for optimal outcomes in managing this potentially fatal condition.