Bilateral Morgagni hernia in a Palestinian child with Down syndrome: a rare case report and literature review

Abstract

Introduction and Importance:

Morgagni hernia (MH) is the rarest congenital diaphragmatic hernia, comprising 2–5% of cases, usually right-sided. Bilateral MH is extremely rare, with poorer outcomes, and often involves herniation of abdominal organs into the thoracic cavity. Down syndrome (DS) increases MH risk, but bilateral cases in DS are seldom reported.

Case Presentation:

A 14-month-old Palestinian male with karyotype-confirmed DS presented with recurrent respiratory infections. Chest radiography revealed a cystic thoracic mass. Computed tomography confirmed bilateral MH containing the transverse colon.

Clinical Discussion:

Bilateral MH in DS is rare and may present with nonspecific respiratory symptoms. Imaging is crucial for diagnosis, and surgical repair prevents serious complications. The patient underwent uneventful open repair, with no recurrence to date.

Conclusion:

In DS patients with persistent respiratory distress, bilateral MH should be considered. Early diagnosis and timely surgery can achieve excellent outcomes despite its rarity.

Introduction

Morgagni hernia (MH) is the most uncommon type of congenital diaphragmatic hernia (CDH), accounting for approximately 2–5% of cases^[1]. They are frequently found on the right side of the sternum^[2]. Bilateral defects are extremely rare and can be associated with poorer outcomes, particularly in cases with delayed diagnosis or significant associated anomalies^[3]. Although severe cases can involve the stomach, liver, and small intestines, MHs allow abdominal contents like the colon and omentum to enter the thoracic cavity^[4]. There are no specific physical features to support a diagnosis of MH. Patients may present with repeated respiratory distress or inability to thrive in infancy. However, in some cases, MH is identified inadvertently by imaging later in adulthood^[5]. Congenital cardiac problems, anomalies of the chest wall, and certain genetic syndromes, like Down syndrome (DS), can be linked to certain occurrences of MH. Usually, a transabdominal or transthoracic procedure is used to fix the abnormality^[6]. Here, we describe a 14-month-old boy, DS, who had persistent respiratory problems. After a suspicious cystic mass was discovered on a chest X-ray, computed tomography (CT) revealed a rare bilateral MH that included the transverse colon. This work has been reported in line with the Surgical Case Report (SCARE) 2025 guidelines^[7].

HIGHLIGHTS

• Morgagni hernia (MH) is the rarest congenital diaphragmatic hernia – representing only 2–5% of cases, with bilateral MH being exceptionally uncommon and clinically significant.

• Bilateral MH carries high morbidity risks – this rare presentation should be suspected in cases of recurrent chest infections or persistent respiratory distress.

• Down syndrome is a known risk factor for MH – however, bilateral MH in Down syndrome patients remains extraordinarily rare, making this case particularly noteworthy.

• Early surgical intervention is crucial – prompt diagnosis and repair prevent life-threatening complications like bowel obstruction or strangulation.

Case presentation

We present a case of a 14-month-old Palestinian male infant with DS, diagnosed by karyotyping at birth. He was born preterm at 36 + 4 weeks of gestation, via normal vaginal delivery, with a birth weight of 2960 g.

Shortly after delivery, he developed tachypnea, grunting, and oxygen desaturation. He was subsequently transferred to the Neonatal Intensive Care Unit (NICU) as a case of Transient Tachypnea of the Newborn (TTN). A chest X-ray performed at that time was normal. He spent 13 days in the NICU.

At the age of 8 months, the patient began experiencing recurrent chest infections, which were managed in an outpatient setting with multiple courses of antibiotics.

On April 15, 2024, he was presented to the hospital with nasal congestion, cough, and fever associated with rapid breathing. A chest X-ray was performed and showed a cystic mass (Fig. 1), so he was admitted for further investigation and management.

Figure 1.

Chest X-ray (AP, supine) showing bilateral, well-defined cystic lesions are seen in the lower thorax (the white arrows), findings are suggestive of bilateral congenital diaphragmatic hernias, likely Morgagni type. No signs of consolidation or effusion.

On April 15, 2024, a chest CT with contrast was performed to rule out a lung mass (Fig. 2). The imaging revealed right upper and left lower lobe pneumonia, as well as a large anterior bilateral diaphragmatic hernia (with a defect of about 3 cm in sagittal view), located anterior to the heart, containing segments of transverse colon, compatible with MH. A consultation with a pediatric surgeon was subsequently conducted.

Figure 2.

Chest CT scan (A: axial, B: sagittal) showing large bilateral anterior diaphragmatic hernia (with defect about 3 cm), located anterior to the heart, containing segments of the transverse colon, compatible with MH (red arrows), the hernia causing minimal compression on the left ventricle.

Then, the patient was admitted as an elective case for bilateral Morgagni diaphragmatic hernia repair via open technique (laparotomy). The procedure was completed smoothly and without complications. Follow-up after the procedure showed an improvement in the patient’s condition, and there was no evidence of recurrence of hernia up to this date.

Discussion

Congenital diaphragmatic hernia is a rare embryological defect resulting from incomplete diaphragmatic closure, allowing abdominal viscera to herniate into the thoracic cavity. While the exact pathogenesis remains unclear, approximately 30–50% of cases are associated with chromosomal abnormalities (including trisomies 18, 13, and 21) or other congenital anomalies^[8]. While different types of CDH occur through different diaphragmatic defects, MH remains the rarest type and occurs in approximately 2–5% of reported cases^[1].

A MH arises when the front part of the diaphragm does not form properly during fetal development. This typically happens because of incomplete fusion between the septum transversum and the costal margins. In most cases, it appears on the right side (91%). Hernias on the left are far less common (5%), with only 4% of the cases being bilateral^[9]. The presence of MHs on both sides, as seen in our patient, represents an unusual and noteworthy finding.

Down syndrome is commonly associated with gastrointestinal anomalies, most notably duodenal atresia (67%), Hirschsprung disease (14%), and tracheoesophageal atresia (10%)^[10]. Although MH has been reported in this population, bilateral involvement, as seen in our case, is exceptionally rare and has been documented only in a few literatures (Table 1).

Table 1.

Reported case reports of bilateral MH in Patients with DS

Case report	Age of presentation	Main presentation	Location
Shayba et al (2024)[11]	1 year and 8 months	Recurrent respiratory infections	Bilateral
Al‑Salem and Khawaher (2002)[12]	13 months	Delayed presentation, respiratory distress	Bilateral
Kubiak and Platen (1998)[13]	4.5 years	Respiratory difficulties, delayed diagnosis	Bilateral

The clinical manifestations of MH are often variable and subtle, which can delay timely diagnosis. Many patients exhibit nonspecific respiratory symptoms such as chronic cough, wheezing, and recurrent chest infections that can mimic common pediatric conditions like asthma or bronchiolitis^[1]. In other case scenarios, patients may present with intermittent gastrointestinal symptoms such as abdominal pain, nausea, vomiting, or signs of bowel obstruction, though such presentations are less frequent^[14]. Importantly, a significant number of MHs are discovered incidentally during imaging performed for other reasons (in up to 50% of cases), especially in asymptomatic individuals or those with vague clinical findings^[1]. The diagnostic challenge is even greater in syndromic patients, such as those with DS. In patients with DS, recurrent respiratory infections are common and often attributed to underlying hypotonia, immune dysfunction, and structural airway anomalies^[15]. These baseline features can obscure the recognition of additional pathologies such as MH, leading to delayed imaging and diagnosis. In our case, the nonspecific respiratory symptoms were initially presumed to be part of the patient’s syndromic profile, highlighting the diagnostic challenge and the importance of maintaining a high index of suspicion for anatomical abnormalities when symptoms persist without clear cause.

Imaging plays a central role in confirming the diagnosis of MH. Although chest X-rays can sometimes suggest the presence of bowel loops or air-fluid levels within the thoracic cavity, the findings are often subtle or nonspecific^[16]. In our patient, definitive diagnosis was done through CT, which provided clear visualization of bilateral anterior diaphragmatic defects along with transverse colon herniation into the chest. CT remains the most reliable imaging modality for identifying the extent and content of the hernia, particularly in unusual or complex presentations where initial investigations may be inconclusive^[5].

Surgical repair is the definitive treatment for MH and is generally associated with excellent outcomes. There are different surgical approaches for MH repair, including both open (transabdominal or thoracotomy) and laparoscopic techniques. Multiple studies have demonstrated that laparoscopic repair of MH offers several advantages over the open approach, including shorter operative time, quicker return to feeding, reduced need for postoperative pain management, and shorter hospital stays^[17]. Importantly, these benefits are achieved without an increase in complications or recurrence rates^[18]. However, our patient underwent successful surgical correction via an open technique (laparotomy), with marked improvement in respiratory symptoms postoperatively. Early diagnosis and intervention are critical to avoid complications such as bowel obstruction, strangulation, or chronic pulmonary compromise^[1].

The limitation of this case report is its nature as a single patient observation, which restricts the generalizability of the findings. Furthermore, we are unable to evaluate late complications or recurrence at this time because long-term postoperative follow-up is still ongoing. Due to the rarity of bilateral MH in patients with DS, there is also limited comparative data in the existing literature to contextualize our findings more broadly.

Ethical approval

Ethical approval was not required for case reports under our institutional review board guidelines.

Consent

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.

Sources of funding

The authors declare that writing and publishing this manuscript was not funded by any organization.

Author contributions

A.S., B.A., B.P., I.A., H.E., and R.T.H. were involved in conception of the study, acquisition of data, drafting and reshaping the initial manuscript, and revising the contents. A.A. helped in revising and final editing of the manuscript critically for important intellectual content. All authors approved the final version of the manuscript and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Conflicts of interest disclosure

The authors have no conflict of interest to declare.

Guarantor

Dr. Anwar Abu Hett

Research registration unique identifying number (UIN)

Not applicable.

Provenance and peer review

Our paper has not been published previously.

Data availability

The data used to support the findings of this study are included in the article.