A rare case of congenital lobar emphysema presenting as recurrent pneumonia in early adulthood: A case report and literature review

Abstract

Introduction and significance

Congenital lobar emphysema (CLE) is a rare but important lung malformation typically discovered in the newborn period. Some rare cases are reported in adults. It can present with various respiratory symptoms. Diagnosis relies primarily on chest CT scans, and the main treatment is surgery.

Case presentation

We present a case of a young girl with recurrent respiratory infections who was misdiagnosed with a pneumothorax. A chest tube was inserted. Later, CLE was identified, and the affected lung lobe was surgically removed.

Clinical discussion

This case highlights the importance of including CLE in the differential diagnosis for hyperinflation of a lung lobe. A CT scan is crucial for confirmation.

Conclusion

Congenital lobar emphysema is a rare disease that primarily affects children. Most children with CLE experience symptoms and require surgery. In adults, CLE is uncommon, and surgery is based on the severity of symptoms and radiological findings.

Highlights

• •Congenital lobar emphysema (CLE) is a rare lung disorder, particularly in adults.
• •The majority of CLE cases present in early childhood, with rare occurrences in adults. This rarity in adults can lead to misdiagnosis as pneumothorax.
• •In some cases, CLE can also be acquired, so it is important to conduct a study to rule out acquired causes if diagnosed in adults.
• •The basic diagnosis is made through a CT scan of the chest, with emphasis on Echocardiogram to study the accompanying abnormalities.
• •Surgery is the preferred treatment approach for symptomatic cases. Even for conservatively managed cases, close follow-up is essential.

1. Introduction

Congenital lobar emphysema (CLE) is a rare lung malformation with an estimated incidence of approximately 1 in 20,000 to 1 in 30,000 live births [1]. It is characterized by hyperinflation of one or more lung lobes due to partial obstruction within the bronchi. This obstruction can cause pressure on nearby organs and displacement of the mediastinum (the central compartment in the chest) towards the opposite side [2].

The majority of CLE cases are diagnosed in newborns. Adult cases are very uncommon, as the condition usually manifests in infancy or the neonatal period [3]. Symptoms may include shortness of breath and coughing [3]. Our case report highlights a rare presentation of CLE in adulthood, similar to a few documented cases in the medical literature [4,5]. A high degree of clinical suspicion is crucial for diagnosing CLE in adults, especially since adult cases are rare and can be misdiagnosed as pneumothorax. This can lead to incorrect management, such as intercostal drainage, as seen in our patient [4,6]. Chest X-ray is the initial diagnostic step, typically revealing enlargement of the affected lobe with a shift in the mediastinal structures [6].

This case is described in accordance with the criteria of SCARE [7].

2. Presentation of case

2.1. Patient information

We present the case of a 14-year-old girl with a history of recurrent respiratory infections since birth and multiple hospital admissions at an external hospital. The parents reported that the child presented with sudden shortness of breath without fever or cough, prompting a visit to the emergency department of our hospital.

3. Clinical findings

When she arrived at the emergency department, her general condition was good. No central or peripheral cyanosis was observed, and no signs of use of the accessory pectoral muscles were noted.

4. Diagnostic assessment

Heart rate of 118 beats per minute, blood pressure of 123/62, temperature of 98.2 F, respiratory rate of 42 breaths per minute, and oxygen saturation of 86 % on room air.

A chest X-ray revealed left-sided pneumothorax (Fig. 1-A). A chest tube was placed emergently, leading to a slight improvement in symptoms. However, follow-up imaging after chest tube insertion showed persistent pneumothorax.

Fig. 1-A.

Chest X-ray showing The left upper lobe appears hyperinflated with a shift of the mediastinal structures to the right.

Bronchoscopy showed the larynx and vocal cords within normal. Right bronchial tree Abundant purulent secretions were found in the right bronchial tree from the superior-inferior ostia. Left bronchial tree copious purulent discharge from the ostia of the lower lobe.

Computed tomography (CT) of the chest showed Hyperinflated in the upper lobe of the left lung, with cystic cavities within it, infiltrates throughout the lower lobe, and normal pulmonary parenchyma on the right side (Fig. 1-B, Fig. 1-C).

Fig. 1-B.

CT/cross sectional view showing The left upper lobe shows emphysematous changes with cystic formations. The right lung appears normal.

Fig. 1-C.

CT/cross sectional view showing The left lower lobe appears compressed and has inflammatory infiltrates.

Echocardiogram showed a hyperkinetic heart, showing mild insufficiency in the mitral valve and tricuspid, with an aneurysm on the septum between the two atria.

The child was discharged from the hospital on inflammatory medications, and a review after two months.

the CT scan after drug treatment showed the presence of Hyperinflated in the upper lobe of the left lung, with the inflammatory condition in the lower lobe improving and remaining compressed due to the enlargement of the upper lobe (Fig. 2-A, Fig. 2-B).

Fig. 2-A.

CT/cross sectional view After two months of drug treatment showing The left upper lobe shows clear emphysematous changes.

Fig. 2-B.

CT/cross sectional view After two months of drug treatment showing The left lower lobe shows improvement in inflammatory infiltrate.

5. Therapeutic intervention

Based on the diagnostic findings, surgery was performed under general anesthesia. After isolating the left lung, a posterior lateral incision was made on the fifth left intercostal space, reaching the chest cavity. The left upper lobe was found to be enlarged despite lung isolation, confirming the presence of congenital lobar emphysema (Fig. 3-A, Fig. 3-B). The entire upper lobe was resected to ensure proper ventilation of the remaining lower lobe (Fig. 3-C). A chest tube was placed for drainage, and the chest wall was closed.

Fig. 3-A.

Intraoperative photograph showing The left lower lobe appears small and atrophic.

Fig. 3-B.

An image during surgery clearly shows the CLE in the left upper lobe.

Fig. 3-C.

Gross specimen of the left upper lobe status post lobectomy.

A chest X-ray 24 h post-surgery revealed good expansion of the remaining lower lobe (Fig. 4-A). Histopathological examination of the resected tissue demonstrated chronic nonspecific inflammation with moderate infiltrates and emphysematous changes within the lung parenchyma (Fig. 5-A, Fig. 5-B).

Fig. 4-A.

Chest X_Ray after surgery shows The left lung shows good expansion with a chest tube in place on the left side.

Fig. 5-A.

H&E stained section showing inflammatory infiltrates and hemosiderin macrophages.

Fig. 5-B.

H&E stained section showing moderate emphysematous changes.

The patient was monitored for approximately one week. The chest tube was then removed, and they were discharged in good overall condition.

6. Discussion

During the third week of pregnancy, abnormalities can occur in the final stages of lung development, leading to congenital lobar emphysema (CLE), a rare lung malformation first described in the 20th century [8].

The exact cause of CLE remains unclear (unknown). Several factors may be involved, including: Abnormalities in bronchial cartilage formation, Bronchial obstruction, Vascular anomalies, Cytomegalovirus infection (another possibility) [9].

The most common potential cause is airway obstruction during development, such as congenital bronchial cartilage defects, seen in roughly 25 % of diagnosed cases [10].

It's important to distinguish CLE from acquired causes of hyperinflation, which can occur later in life. These include: Mucous membrane swelling, Meconium or foreign body inhalation, Mediastinal tumors.

These acquired conditions can cause partial airway obstruction, trapping air during exhalation and leading to excessive lung inflation [3].

Males are slightly more likely to be affected by CLE than females [5]. The malformation most commonly involves the left upper lobe, followed by the right upper lobe (around 21 % of cases). Lower lobe involvement is rare [5].

The majority of CLE cases present in the newborn period or early childhood. Adult cases are very uncommon [11].

Clinically, children with CLE present with respiratory distress, which often occurs due to recurrent respiratory infections that lead to increased air retention in the lungs. Respiratory distress may occur suddenly, and some people with this deformity may remain without symptoms for years. Clinical examination may show tachypnea, use of accessory respiratory muscles, and decreased respiratory sounds on the affected side, in addition to ringing in the affected site of the lung.

Chest X-ray is the initial imaging tool for suspected CLE. It can reveal hyperinflation of the affected lobe and a shift of the mediastinum towards the same side (ipsilateral). Chest CT is considered the gold standard for diagnosing CLE. It allows for detailed evaluation of adjacent lung lobes, the contralateral lung, and potential abnormalities like vascular malformations or mediastinal masses [12].

Bronchoscopy has limited use in CLE but may be considered in cases with a history of foreign body aspiration or to assess anatomical variations of the airways [13].

Echocardiography is recommended and considered crucial due to the association with cardiac abnormalities in 14–20 % of CLE cases [14]. It helps identify any coexisting heart problems.

Surgery is the primary treatment for CLE, and early intervention is recommended to avoid complications. Most patients who undergo surgery experience resolution of symptoms and achieve normal growth and development [15,16].

However, some reports mention conservative management for patients with mild or no symptoms [24–26]. These patients require close monitoring due to the potential for symptom development and future surgical needs [17,18].

In our case, the initial diagnosis as pneumothorax was incorrect, which led to the unnecessary and harmful placement of a chest tube. We then investigated the possibility of an acquired cause of CLE, and based on the inflammatory state, the child was discharged on anti-inflammatory medications to treat the infectious condition. A follow-up CT scan was performed, and the decision was made to surgically resect the entire lobe, which was curative for the patient.

7. Conclusion

For common adult lung diseases, meticulous evaluation of differential diagnoses is essential. Misdiagnosis can lead to unnecessary and potentially harmful interventions, as exemplified in our case. The patient was misdiagnosed with pneumothorax, a frequent emergency department presentation, leading to the inappropriate placement of a chest tube. This underscores the importance of including congenital lobar emphysema (CLE) in the differential diagnosis.

Abbreviations

CLE

Congenital Lobar emphysema

CT

Computerized tomographic

Consent of patient

Written informed consent was obtained from the patient's parents/legal guardian for publication and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Ethical approval

Ethics approval and consent to participate approval is not required for deidentified single case reports or histories based on institutional policies.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Author contribution

Ali Alrahil: Conceptualization, resources, who wrote, original drafted,

edited, visualized, validated, literature reviewed the manuscript,

and the corresponding author who submitted the paper for publication.

Mazen Aljanadi: Supervision, visualization, validation, resources.

Rand Alslaiman: investigation, data curation, writing, editing and reviewing.

Mohammad Tahsen Mahjaa and Abdullah Alfandi: Visualization, validation, and review of the manuscript.

Ahmad Abo Absa M.D. PHD: who performed and supervised the operation, conceptualization, investigation, data curation, writing, editing.

All authors read and approved the final manuscript.

Guarantor

Ali Alrahil.

Research registration number

N/A

Provenance and peer review

Not commissioned, externally peer-reviewed.

Declaration of competing interest

The authors declare that they have no competing interests.

Availability of data and materials

The datasets generated during and/or analyzed during the current study are not publicly available because the Data were obtained from the hospital computer-based in-house system. Data are available from the corresponding author upon reasonable request.