Abstract

Achalasia is a rare childhood disease. We report a case of a 15-year-old child with recurrent respiratory infections over the past 5 years. Due to positive household contacts with relatives with positive sputum pulmonary tuberculosis, he was referred to our pulmonology clinic. The child exhibited symptoms of failure to thrive, fatigue, intermittent fever, and chronic dry cough. A detailed medical history revealed that the child vomited almost after every meal and had regurgitation and odynophagia. On physical examination, the child was in a poor general condition, with an intoxicated appearance, febrile (38.5°C), with asthenic habitus, and with evidence of respiratory failure. The chest X-ray shows a strongly enlarged paratracheal shadow and infiltrative changes in the left lower lung lobe, which indicated various conditions affecting the trachea, mediastinum, or pleura. A CT scan of the lungs revealed severe long-term esophageal achalasia with an extremely dilated lumen measuring 69×58 mm in axial size. The bird’s beak sign in the esophagus was seen on a barium swallow. 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. A laparoscopic Heller myotomy was performed, 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.

achalasia, childhood, endoscopic dilatation, Heller myotomy, pneumonia

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) .

Figure 1.

Chest X-ray enlarged paratracheal shadow is marked with red arrow, infiltrative changes in the left lower lung lobe.

Figure 2.

A CT scan of the lung shows achalasia (red arrow). The infiltration in the left lung in basal segment is marked with blue arrow.

Figure 3.

The barium swallow showed the bird’s beak sign of the esophagus marked with red arrow.

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) .

Figure 4.

A, B, C. Steps of balloon-dilatation of stenotic segment.

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.

Figure 5.

A, B. Intraoperative pictures from Heller myotomy.

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) .

Figure 6.

A. The initial barium swallow test showed the bird’s beak sign of the esophagus marked with a red arrow; B. Follow-up at one year showed that the esophageal width was normal and no contrast material was retained, and the narrowing in the cardia area was minimal (red arrow).

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.

Ethical statement

• The authors declared that no clinical trials were used in the present study.
• The authors declared that no experiments on humans or human tissues were performed for the present study.
• The authors declared that complete written informed consent was obtained form the patient for the publication of this study and accompanying images.
• The authors declared that no experiments on animals were performed for the present study.
• The authors declared that no commercially available immortalized human and animal cell lines were used in the present study.

Conflict of interest

The authors have declared that no competing interests exist.

Artificial Intelligence (AI) use

The authors accept full responsibility for the content of the manuscript, including the disclosure of any use of AI. No AI tools were used in the preparation of this manuscript.

Funding

No funding was reported.

Author contributions

All authors have contributed equally.

Author ORCIDs

Hristo Shivachev https://orcid.org/0000-0003-1152-0020

Data availability

All of the data that support the findings of this study are available in the main text.