Infantile achalasia cardia: A rare case report of a 3-month-old female with recurrent pneumonia successfully treated with surgical intervention

Introduction: Achalasia, a rare esophageal disorder with an annual incidence of 0.11 per 100,000 in children, is characterized by impaired lower esophageal sphincter (LES) relaxation and peristalsis. Infantile cases are extremely uncommon and often linked to genetic conditions like Allgrove and Down syndrome. Diagnosis is challenging due to overlapping symptoms with other pediatric conditions, relying on barium esophagography and esophageal manometry. Heller myotomy remains the preferred surgical treatment to reduce LES pressure.

Case presentation: A 3-month-old female presented with a history of cough, feeding difficulties, and regurgitation, accompanied by respiratory distress and recurrent pneumonia. She was diagnosed with achalasia cardia based on clinical findings and contrast-enhanced esophagography. A modified Heller myotomy with Dor-fundoplication was performed successfully, with no postoperative complications. The patient was discharged in stable condition.

Discussion: Infantile achalasia, a rare condition with unclear etiology, often presents diagnostic challenges. Our early-onset case, lacking syndromic associations, was complicated by recurrent pneumonia, necessitating surgical intervention. The successful outcome after a modified Heller myotomy with Dor-fundoplication supports its efficacy in severe pediatric cases, though long-term monitoring for recurrence is essential.

Conclusion: Achalasia cardia, though rare in infants, should be considered as differential in cases of recurrent pneumonia and feeding difficulties, as its presentation often mimics more common conditions. Prompt diagnosis through thorough evaluation and imaging is essential to ensure timely treatment and improve outcomes.