Achalasia is an esophageal smooth muscle motility disorder that occurs due to a failure of relaxation of the lower esophageal sphincter during the act of swallowing. It is also characterized by an absence of normal peristaltic contractions in the body of the esophagus. This condition is rare in childhood.^[1,2] The etiology and pathogenesis of the condition are unknown.^[3,4] The main symptoms are dysphagia for food, regurgitation of undigested food, respiratory complications like aspiration, chronic cough, chest pain, heartburn and weight loss.^[5-7] The clinical picture of achalasia is not specific and this may delay the diagnosis.^[8] The diagnosis is confirmed by esophagoscopy, barium swallow, and esophageal manometry.^[1,9] Pharmacotherapy, endoscopic procedures, and surgical intervention are aimed at supporting the normal functioning of the lower esophageal sphincter and reducing clinical symptoms.^[1]

The aim of this study was to present a rare case of achalasia in childhood with the presence of respiratory symptoms due to delay in diagnosis and progression of achalasia.

A 15-year-old patient with no previous medical history presented with intermittent low-grade fever, chronic dry cough, progressive weight loss, and recurrent pneumonia. The patient had experienced five episodes of pneumonia in the last year, three of which were treated in peripheral hospitals with conventional antibiotics for respiratory tract infections, but without success. The patient’s aunt and first cousin tested positive for tuberculosis and were treated with antituberculous medications several years ago. The patient was referred for further evaluation to our clinic due to suspected pulmonary tuberculosis.

A physical examination of the child revealed that he was in poor general condition and appeared to be intoxicated. The child had a fever (38.5°C), an asthenic habitus, and evidence of respiratory failure, including inspiratory dyspnea and suprasternal retractions. We could not find any BCG vaccination scar on his left shoulder. Mildly enlarged cervical lymph nodes were observed on both sides. Chest auscultation revealed coarse vesicular breath sounds with bilateral basal crackles, more pronounced on the left. No pathological abnormalities were identified in the remaining somatic status.

A chest X-ray of the child revealed a markedly enlarged paratracheal shadow, indicating infiltrative changes in the left lower lung lobe. These changes suggest various conditions affecting the trachea, mediastinum, or pleura(Fig. 1). A CT scan of the lungs revealed severe, long-standing achalasia of the esophagus with an extremely dilated lumen, measuring a maximum axial size of 69×58 mm. The lumen of the enlarged esophagus was filled with a substantial amount of food debris. The esophagus caused compression-dislocation changes in the adjacent mediastinal structures, and there was evidence of chronic infiltration in the left lung in the basal segments, possibly resulting from aspiration or hypoventilation(Fig. 2). The barium swallow test showed the bird’s beak sign of the esophagus(Fig. 3) .

An esophagoscopy was performed in a surgery clinic, during which a large amount of food material was removed. Three dilations of the esophagus were performed followed by a one-month period of nutritional support(Fig. 4) .

Antibiotic therapy was initiated due to aspiration-type inflammatory changes in the lung. A laparoscopic Heller myotomy was performed(Fig. 5) , followed by four balloon dilations of the cardia under endoscopic control using pneumatic and hydrostatic dilators over a period of one year with significant clinical improvement.

The initial photo showed narrowing(Fig. 6A) , but at the one-year follow-up, we found that the esophageal width was normal, no contrast material was retained, and the narrowing in the cardia area was minimal, indicating a good effect of a Heller myotomy(Fig. 6B) .

Achalasia is a rare condition in childhood, occurring in approximately 0.11 per 100,000 children annually.^[2] Fewer than 5% of all individuals diagnosed with achalasia experience symptom onset before the age of 15 years.^[10] The main symptoms of achalasia are dysphagia, regurgitation, vomiting, chest pain, and weight loss.^[11] According to the literature, it takes about 2 years on average to diagnose achalasia.^[11] The diagnosis is confirmed by esophagoscopy, barium swallow test, and esophageal manometry.^[1,9] Heller myotomy remains the gold standard for the treatment of achalasia.‌^[1]

This clinical case demonstrates that achalasia can manifest in advanced stages as recurrent lower respiratory tract infections. A thorough medical history was obtained, and it was discovered that the child vomited after every meal, and experienced regurgitation and odynophagia. These symptoms were key to the diagnosis of achalasia, but none had been addressed. The patient was referred with suspected tuberculosis due to contact with tuberculosis-positive relatives and recurrent pneumonia for further diagnostic clarification, as important symptoms pointing to achalasia were missed. The diagnosis was made within 24 hours, and the patient referred for surgical treatment. After the surgical intervention and additional balloon dilatations, the child had a decrease in clinical symptoms until their gradual cessation, food tolerance and improved lower esophageal sphincter function. The outcomes showed clinical and lifestyle improvement in the child. Advanced stages of achalasia, as seen in this patient, can lead to malnutrition and increased risk of postoperative complications. Perioperative measurement of butyrylcholinesterase may help assess nutritional and inflammatory status, as low levels of the enzyme have been associated with higher risk of surgical site infections and sepsis in gastrointestinal surgery.^[12] In addition, Internet-of-Things (IoT) technologies could support continuous postoperative monitoring of esophageal function and early detection of complications, offering potential benefits for pediatric patients with delayed diagnosis.^[13]

This case report demonstrates that, while uncommon, advanced achalasia can present as recurrent pneumonia and should be considered in the differential diagnosis of any lower respiratory tract infection. Since an incomplete medical history in this situation causes a delay in diagnosis, a focused medical history continues to be the primary factor in any diagnosis. Untreated achalasia can result in a number of potentially fatal lung, gastrointestinal, and malnutrition complications. Therefore, early diagnosis and treatment are crucial for improving the patient’s quality of life and achieving the best possible clinical outcome.