Incidental finding of a congenital diaphragmatic hernia in a middle-aged female: a rare case report and review of the literature

Abstract

Introduction and importance:

Congenital diaphragmatic hernia (CDH) is a rare condition in adults, often presenting with nonspecific respiratory symptoms and is easily misdiagnosed. CDH results from pleuroperitoneal canal closure failure during gestation, with Bochdalek hernias comprising the majority and Morgagni hernias (MHs) being rare. This case underscores the importance of considering CDH in adults with respiratory symptoms, especially following trauma.

Case presentation:

A 50-year-old woman presented with a 4-month history of intermittent dyspnea worsened by physical exertion, abdominal pain, distention, and constipation. She had a history of a road traffic accident 6 months ago. On physical examination, breath sounds were diminished over the right lung base. Imaging revealed a right-sided diaphragmatic hernia with bowel loops herniated into the thoracic cavity, causing lung compression. Surgical intervention via thoracotomy confirmed a diaphragmatic defect of 15 × 10 cm and hypoplasia of the right lung lobes. Herniated contents were reduced, and the diaphragmatic defect was repaired with mesh. Postoperatively, the patient showed significant symptom relief and was doing well at follow-up.

Clinical discussion:

Adult-onset CDH poses a diagnostic challenge and may lead to life-threatening complications. Right-sided MHs are rare. Imaging, especially CT, plays a key role in diagnosis. Prompt surgical intervention provides excellent outcomes and prevents life-threatening complications such as strangulation or cardiorespiratory compromise.

Conclusion:

A high index of suspicion should be maintained by clinicians for CDH in adults having unclear respiratory or abdominal symptoms, especially after trauma. Early identification and surgical intervention can prevent complications and lead to favorable outcomes.

Introduction

Diaphragmatic hernia (DH), caused by congenital malformations or trauma, is a condition where abdominal contents are herniated into the thoracic cavity and affects 3–5% of trauma patients^[1]. Congenital diaphragmatic hernia (CDH) is common due to fusion defects, with Bochdalek hernias (BHs) being most common and Morgagni hernias (MHs) rarer^[2].

HIGHLIGHTS

• Right-sided Morgagni hernia may mimic respiratory or abdominal pathology.

• Trauma can reveal an asymptomatic congenital diaphragmatic defect.

• CT imaging is essential for diagnosis and further management plan.

• Early surgical repair may result in excellent recovery and prevent complications.

CDH involves pulmonary hypoplasia and vascular defects, presenting from asymptomatic to severe respiratory and gastrointestinal issues, with severity depending on defect size and diagnosis timeliness^[3,4]. CDH is rare in adults, as it is typically diagnosed in infancy. While often discovered incidentally on chest X-rays, some adults may present with symptoms due to hernia-related complications. Early recognition in adults is essential, as surgical correction can prevent complications^[5]. Advances in treatment for CDH have improved survival rates, but survivors may experience chronic health challenges like chronic pulmonary dysfunction, neurodevelopmental delays, hearing loss, and nutritional issues^[6]. Despite these challenges, patients and families report high satisfaction with the quality of life, emphasizing the need for long-term follow-up.

We present a rare case of right-sided MH in a 50-year-old, incidentally diagnosed post-trauma, managed with mesh repair.

This case report has been reported in line with the Surgical Case Report (SCARE) 2025 guidelines^[7].

Case presentation

A 50-year-old Pakistani female presented to the outpatient department with a 4-month history of intermittent shortness of breath, abdominal pain, distention, and off-and-on constipation. The patient reported that her symptoms worsened during physical activities, particularly while walking, and were alleviated by sitting or lying supine. Notably, there were no accompanying symptoms such as cough, sputum production, or fever. Her medical history was significant for a road traffic accident 6 months ago. Other medical and surgical history was unremarkable. She denied any family history of respiratory or congenital abnormalities.

On physical examination, auscultation revealed diminished breath sounds over the right lung, specifically absent from the midzone to the base, while breath sounds over the left lung were normal. The patient’s vital signs were stable, with a Glasgow Coma Scale score of 15/15, blood pressure of 120/70 mmHg, respiratory rate of 20 breaths per minute, temperature of 98.6°F, and a pulse rate of 90 beats per minute.

Laboratory evaluations indicated a hemoglobin level of 13 g/dL, a total leukocyte count of 8.6 × 10⁹/L, a platelet count of 120 × 10⁹/L, and a creatinine level of 0.73 mg/dL. Hepatitis B serology was positive, for which she was taking medication, while other lab results remained within normal limits.

A CT scan (Fig. 1) chest, abdomen, and pelvis with contrast was conducted, which showed large defects in the right hemidiaphragm (large right DH) with herniation of abdominal contents; liver, gall bladder, transverse colon, stomach, and pancreas into the right hemithorax causing compression. There was a partial collapse of the right lung and contralateral mediastinal shift.

Figure 1.

CT scan of chest, abdomen, and pelvis with contrast showing a defect in the right hemidiaphragm, herniation of abdominal contents into the thoracic cavity, partial collapse of the right lung, and contralateral mediastinal shift (A, B, C, D).

A decision for surgical intervention was made. The patient underwent a thoracotomy (thoracolaparotomy) for direct access to the herniated contents. During the procedure, the surgical team identified that the middle and lower lobes of the right lung were hypoplastic. The liver, gallbladder, stomach, and colon were found in the right thoracic cavity, passing through a defect in the right hemidiaphragm measuring approximately 15 × 10 cm. An omentectomy was performed, followed by the reduction of the hernial structures through the diaphragm. A mesh repair using a Prolene 15 × 15 cm patch (Ethicon) was implemented and secured to the remaining diaphragm with Ethicon Prolene no. 1 sutures, ensuring the stability and integrity of the repair. Hemostasis was achieved, and a 32 Fr chest drain was placed to facilitate fluid drainage.

Postoperatively, chest X-ray (PA) Posterior-Anterior view and X-ray abdomen (standing and supine) were performed, which demonstrated the successful repair of the CDH (Fig. 2). The cardiac silhouette appeared normal, and the mediastinum was centrally positioned. The right hemidiaphragm was elevated, consistent with expected postoperative changes. Following surgery, the patient experienced significant improvement in her respiratory symptoms, and she was closely monitored for any complications associated with the surgical procedure and her Hepatitis B status. The patient was admitted for 10 days and then discharged. A follow-up was conducted after a month, and the patient was doing well without any complications. A second follow-up was conducted 3 months after that, and the patient showed no complications. The timeline of events and treatment process is provided (Table 1).

Figure 2.

Postoperative radiographs. (A) Chest X-ray PA view obtained on postoperative day 1 showing the right lung partially collapsed. (B) Chest X-ray PA view obtained on postoperative day 3. (C) X-ray abdomen (supine and standing) obtained on postoperative day 3 showing chest tube in situ in the right hemithorax, right lung unexpanded, left costophrenic angle blunted, and dilated gut loops noted. (D) Chest X-ray PA view obtained on postoperative day 5 showing the right lung partially expanded and occupying the right hemithorax, previously herniated abdominal contents reduced into the abdominal cavity.

Table 1.

Patient timeline summary of events

Event	Date	Details
Initial trauma	March 2024	Road traffic accident
Symptom onset	May 2024	Shortness of breath, abdominal pain, distention, and off-and-on constipation
Initial outpatient visit	10 September 2024	Presented to outpatient department
Preoperative imaging	15 September 2024	CT scan (chest, abdomen, pelvis) and echocardiography
Surgical intervention	18 September 2024	Thoracolaparotomy with mesh repair of diaphragmatic hernia
Post-op imaging	19, 21, and 23 September 2024	Postoperative chest X-rays
Discharge	September 2024	Discharged after resolution of symptoms
First follow-up visit	October 2024	One month after surgery; patient doing well
Second follow-up visit	February 2025	Three months after the first follow-up

Literature review

We initially identified 178 articles published between 2010 and 2025. After removing duplicates and conducting a preliminary screening based on titles and abstracts, 31 articles were selected for full-text review. This number was further narrowed down to 20 relevant studies, of which 7 provided detailed patient demographics that closely correlated with our case report (Table 2).

Table 2.

Literature review

Author	Age/gender	Signs and symptoms	Diagnostic methods	Surgical procedure	Outcome
Our study	50-year-old female	Intermittent dyspnea, worsened by physical exertion	CT scan, X-ray	Thoracolaparotomy, omentectomy, mesh repair	Resolved symptoms and absence of complications
Menawar Dajenah et al (2022)[8]	70-year-old male	Sudden abdominal pain and respiratory distress	Chest CT scan	Open surgical repair of Morgagni hernia	Full recovery within 5 months
Aditya Sharma et al (2023)[9]	85-year-old female	Abdominal pain, vomiting, absolute constipation	CECT, USG, chest X-ray	Open repair with a roof-top incision, hernia content reduction, and primary closure of a 6 × 3 cm diaphragmatic defect	Uneventful recovery, discharged on postoperative day 3 in satisfactory condition
Horiguchi et al (2022)[10]	57-year-old male	Dyspnea on exertion	CT scan and spirometry	Laparoscopic surgery	Postoperative recovery, with no recurrence on follow-up
Mouhsin Ibba et al (2024)[11]	72-year-old female	Persistent dyspnea post-COVID-19 pneumonia	Chest X-ray, thoracic CT scan	Right posterolateral thoracotomy, hernia sac resection, diaphragmatic defect closure with silk sutures	Uneventful recovery, no abnormalities on follow-up chest X-rays
Yubin Zhou et al (2014)[12]	50-year-old female	Mild dyspnea worsened with exertion, decreased breath sounds, and increased bowel sounds in the left hemithorax	Contrast-enhanced CT, MPRs	Thoracotomy, reduction of abdominal organs, defect repaired with Dacron patch	Uneventful recovery, good lung re-expansion, discharged without symptoms
Starr et al (2024)[13]	69-year-old female	Recurrent epigastric pain, nausea, vomiting, food intolerance	CT scan	Open surgery; defect closed without mesh	Successful primary repair, patient discharged on postoperative day 3 without complications
Alireza Malekzadegan et al (2016)[14]	68-year-old female	Constant sharp RUQ abdominal pain worsened by eating, relieved by lying down	CECT USG	Posterolateral thoracotomy with hernia reduction and mesh repair	Full recovery after surgery; discharged in stable condition

The excluded articles mostly addressed early onset of symptoms, prenatal diagnosis, animal studies, or presented a different clinical focus that did not align with our case – for instance, hernias in the presence of complex comorbidities or unrelated presentations. Furthermore, several articles were excluded due to inadequate clinical detail, lack of outcome reporting, or limited access to full-text content. However, they still offered valuable insights into patient profiles, treatment approaches, and outcomes.

Overall, the reporting quality of the enclosed studies was high, with the majority meeting the defined inclusion criteria. The articles (Figure 3) were sourced from PubMed (70), Google Scholar (38), and Scopus (70).

Figure 3.

Flow diagram for the literature search and screening process.

Discussion

Our patient presents with an uncommon case of CDH manifesting in adulthood, characterized by nonspecific respiratory symptoms and a history of trauma, which made the diagnosis challenging. While congenital hernias are typically detected in early childhood, about 11% may not present symptoms until later in life. Similarly, minor traumatic injuries to the diaphragm sustained during childhood may also present later^[1]. A key differentiating factor of CDH is the presence of lung hypoplasia, as observed in this patient. It is possible that the trauma exacerbated a pre-existing but previously asymptomatic congenital defect.

Late-presenting CDH can occur as isolated cases or may be linked to chromosomal abnormalities, such as trisomy 18, or genetic syndromes, including Fryns syndrome. CDH results from failed closure of the pleuroperitoneal canals during the 4th and 12th week of gestation and are categorized primarily into two types: BHs and MHs. BHs, which account for approximately 95% of cases, typically occur on the left side and involve a defect in the posterolateral portion of the diaphragm. In contrast, MHs are much rarer, comprising about 3–5% of cases, and are common on the right side, in the anterior or retrosternal region of diaphragm^[2]. Our case, presenting as an MH on the right side, highlights the rarity of this condition.

Individuals with CDH may experience respiratory insufficiency and gastrointestinal symptoms, as well as long-term cardiological, neurological, and musculoskeletal complications. The most common presentation is respiratory (43%), followed by gastrointestinal (33%), both respiratory and gastrointestinal (13%), and asymptomatic cases (11%). CDH on the left side often causes acute gastrointestinal symptoms like dyspnea, chest pain, abdominal pain, fullness, and vomiting, which can lead to cardiorespiratory failure. In contrast, right-sided CDH typically presents with primarily respiratory issues. This is because the partial displacement of the liver can inhibit the further herniation of hollow viscera into the thoracic cavity^[1,3]. Many individuals with similar conditions may remain asymptomatic. When symptoms do manifest, clinicians may misdiagnose them as other conditions, leading to delays in diagnosis and treatment. Therefore, a differential diagnosis of CDH should always be considered in such cases.

Diagnosing asymptomatic CDH can be quite difficult in clinical practice. Nevertheless, imaging techniques like chest X-rays, CT scans, and barium studies are useful tools for identifying the defect^[1,4]. A common radiological finding of CDH is the opacity of the affected hemithorax, which is often accompanied by a mediastinal shift toward the opposite side and an atypical gastric bubble position on an erect chest X-ray. (CXR) Chest X-ray alone is often insufficient for diagnosing DH unless there are clear signs like air or air-fluid levels within a hollow viscus overlying the thorax or coiling of the supra-diaphragmatic nasogastric tube during insertion. The sensitivity and specificity of CT in diagnosing CDH range from 14 to 82 and 87%, respectively. While magnetic resonance imaging (MRI) can also be helpful, it is typically not performed in emergencies. Instead, MRI is used for stable patients or when CT results are inconclusive. While focused assessment with sonography for trauma can be useful for diagnosing other conditions, it has limited effectiveness for identifying traumatic diaphragmatic injuries^[3,4]

Surgical management remains the gold standard for treating DH. Both laparotomy and laparoscopy are viable options, allowing for the reduction of herniated contents and closure of the defect. In elective cases, many experts recommend a thoracic approach, while the abdominal route is preferred if septic complications are present. Simple tension-free suturing with non-absorbable material (herniorrhaphy) or mesh repair (hernioplasty) are both effective methods for closing the defect. The choice between thoracic or abdominal approaches, as well as whether to use open surgery or minimally invasive techniques, depends on the presence of visceral complications^[2,5]. Although recurrence after CDH repair in adults is rare, it has been documented even decades later^[10]. Recurrence risk depends upon the size of the defect, tension on repair, and the quality of residual diaphragm tissue. Therefore, long-term follow-up should be considered in adult CDH patients. Suspicion for CDH after trauma should be maintained when patients exhibit unexplained dyspnea, persistent reduced breath sounds, or mediastinal shift, especially if symptoms do not correlate with typical post-traumatic injuries. This case highlights a uniquely educational aspect, like the presence of right-sided lung hypoplasia in conjunction with a delayed, trauma-triggered manifestation of a congenital diaphragmatic defect is uncommon and can easily be overlooked.

This report is limited by its nature as a single case, which restricts generalizability. Long-term pulmonary function testing and extended radiologic follow-up were not available, which limits assessment of potential recurrence and long-term respiratory outcomes.

Conclusion

This case highlights the diagnostic challenge of CDH in adults. A high index of suspicion should be maintained for CDH in adults with unexplained respiratory or gastrointestinal complaints, especially in the presence of lung hypoplasia or post-traumatic symptom onset. Early recognition and surgical repair are critical, as prompt intervention can alleviate symptoms and prevent further complications, significantly improving patient outcomes and quality of life.

Ethical approval

Not required for this study.

Consent

Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Sources of funding

None.

Author contributions

All the authors were involved in manuscript preparation, review of literature, and final approval of the manuscript. HM: Conceptualization; Data curation; Project administration; Writing – original draft; Writing – review & editing. SMRB: Conceptualization; Data curation; Writing – original draft; Writing – review & editing. HR, MZ, AM, MA, GA, ZH, MH, RR: Methodology; Project administration; Writing – review & editing; Validation. All authors read and approved the final manuscript.

Conflicts of interest disclosure

Authors have no conflicts of interest.

Guarantor

Rashidullah Rashidi.

Research registration unique identifying number (UIN)

Not applicable.

Provenance and peer review

Not commissioned, externally peer-reviewed.