Rare Right Congenital Diaphragmatic Hernia with Ileum and Colon Herniated into Thoracic Cavity in an 18-Year-Old Adult
Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly that is typically diagnosed in newborns or during childhood. However, in even rarer cases, CDH may remain asymptomatic and undetected until adulthood, presenting a diagnostic challenge. This article discusses a unique case of a right-sided CDH in an 18-year-old adult, highlighting the clinical presentation, diagnostic process, surgical intervention, and postoperative outcomes. The case underscores the importance of timely diagnosis and surgical repair to prevent life-threatening complications.
Clinical Presentation
The patient, an 18-year-old Chinese man, presented with complaints of right chest pain and right lower abdominal discomfort that had persisted for one week. The chest pain was described as distending and stabbing, which worsened when lying down and alleviated while standing. The patient also reported a decline in physical performance during sports activities over the past five years. Notably, he denied any symptoms of coughing, chest distress, or dyspnea. His medical history was unremarkable except for a successfully treated appendectomy five years prior, and he had no recent history of trauma. The patient was slightly overweight, with a body mass index (BMI) of 27.8 kg/m².
During the initial physical examination, the patient’s vital signs were stable. Pulmonary examination revealed decreased breath sounds in the right lower lung and an elevation of the inferior boundary of the right lung on percussion. No abnormalities were detected during cardiac or abdominal examinations. These findings prompted further diagnostic imaging to investigate the underlying cause of the symptoms.
Diagnostic Imaging
A chest radiograph was performed, which showed atelectasis of the right lung and an elevated right diaphragm. To confirm the diagnosis, a computed tomography (CT) scan was conducted. The CT scan revealed a pleuro-peritoneal hiatus hernia of the right diaphragm, specifically a Bochdalek hernia. This type of hernia is characterized by a defect in the posterolateral diaphragm, allowing abdominal contents to herniate into the thoracic cavity. In this case, the CT scan demonstrated a local defect in the right posterolateral diaphragm, with parts of the small intestine, colon, and mesentery herniating into the thoracic cavity. An ultrasound examination was also performed, which showed no evidence of pleural or pericardial effusion.
Based on the patient’s symptoms, physical examination findings, and radiographic outcomes, a diagnosis of right-sided congenital diaphragmatic hernia (Bochdalek hernia) was made. The absence of a clear trauma history further supported the congenital nature of the hernia.
Surgical Intervention
Given the diagnosis, immediate surgical intervention was recommended to prevent potential complications such as incarceration, intestinal obstruction, or strangulation. A laparoscopic tension-free hernioplasty of the right diaphragm was performed using an anti-adhesion patch. During the surgery, a defect measuring approximately 7 cm × 6 cm × 5 cm was identified at the top of the right diaphragm. Multiple abdominal organs, including part of the ileum and the right colon, were found herniating into the right thoracic cavity with slight adhesion.
The surgical procedure was successful, and the patient recovered quickly. He was able to walk independently within three days post-surgery. A follow-up CT scan conducted one month after the surgery showed a normal manifestation of both lungs, confirming the resolution of the hernia and the absence of complications.
Discussion
Congenital diaphragmatic hernia is a rare condition, with an estimated incidence of 1 in 2000 to 3000 live births. It is most commonly diagnosed in newborns or during childhood, often presenting with severe respiratory distress and a high mortality rate of 40% to 50%. However, in a small subset of cases, CDH may remain asymptomatic until adulthood. In fact, one-fourth to half of all CDH cases in adults are diagnosed incidentally, often during imaging studies performed for unrelated reasons.
Adults with CDH may present with a wide range of symptoms, including acute or chronic respiratory issues, intermittent gastrointestinal symptoms, or, in some cases, no symptoms at all. This variability in presentation can lead to misdiagnosis or delayed diagnosis, emphasizing the importance of considering CDH in the differential diagnosis of adults presenting with unexplained chest or abdominal symptoms.
In this case, the patient’s symptoms were likely due to the progressive enlargement of the diaphragmatic defect over time, leading to the herniation of abdominal contents into the thoracic cavity. The patient’s history of declining physical performance in sports over the past five years suggests that the hernia may have been slowly worsening, causing increasing discomfort and functional limitations. Despite the significant atelectasis observed on imaging, the patient did not report dyspnea or chest distress, which is somewhat unusual but not unheard of in cases of CDH.
Importance of Surgical Repair
The case highlights the importance of surgical repair in patients with diaphragmatic hernia, even when asymptomatic. Left untreated, CDH can lead to potentially life-threatening complications, including incarceration, intestinal obstruction, and strangulation. Surgical repair is associated with low mortality and low recurrence rates, making it the preferred treatment option for patients with CDH.
In this case, the laparoscopic approach was chosen, which offers several advantages over open surgery, including reduced postoperative pain, shorter hospital stays, and quicker recovery times. The use of an anti-adhesion patch during the procedure helps to prevent the formation of adhesions, which can lead to complications such as bowel obstruction in the future.
Conclusion
This case of a right-sided congenital diaphragmatic hernia in an 18-year-old adult is a rare presentation of a condition that is typically diagnosed in infancy or childhood. The case underscores the importance of considering CDH in the differential diagnosis of adults presenting with unexplained chest or abdominal symptoms. Diagnostic imaging, including chest radiographs and CT scans, plays a crucial role in confirming the diagnosis and guiding surgical intervention.
Timely surgical repair is essential to prevent complications and improve outcomes in patients with CDH. The laparoscopic approach, combined with the use of anti-adhesion patches, offers a safe and effective treatment option for these patients. This case serves as a reminder that rare hernias, such as adult diaphragmatic hernia, should be kept in mind when evaluating patients with atypical symptoms, and that prompt surgical intervention can lead to favorable outcomes.
doi.org/10.1097/CM9.0000000000000135
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