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 birth defect where the diaphragm—the muscle separating the chest and abdomen—fails to close completely, allowing abdominal organs to slip into the chest. Most cases are diagnosed in newborns, who often face severe respiratory distress and a 40–50% mortality rate. But what if CDH goes undetected until adulthood? A 2019 case from Zhejiang University School of Medicine highlights this unusual scenario—and why doctors must stay vigilant for rare conditions.
An 18-year-old Chinese male arrived at the Second Affiliated Hospital of Zhejiang University School of Medicine with one week of right chest pain and right lower abdominal discomfort. His pain was distending and stabbing, worsening when he lay down and easing when he stood. He’d noticed declining sports performance over five years but had no cough, shortness of breath, or recent trauma. His only medical history was an appendectomy at age 13, and his body mass index (BMI) was 27.8 kg/m² (slightly overweight).
During his exam, doctors found decreased breath sounds in his right lower lung and an elevated boundary of his right lung on percussion—clues that something was pressing on his lung. A chest X-ray revealed atelectasis (collapsed lung tissue) and an elevated right diaphragm. A computed tomography (CT) scan confirmed the cause: a right-sided Bochdalek hernia (a type of CDH) in the posterolateral diaphragm. Part of his ileum (small intestine), right colon, and mesentery had herniated into his right chest cavity.
The team performed a laparoscopic tension-free hernioplasty—a minimally invasive surgery using an anti-adhesion patch to close the diaphragm defect. During the operation, they discovered a 7 cm × 6 cm × 5 cm hole at the top of the right diaphragm, with mild adhesion between the herniated organs and the chest wall. The patient recovered quickly: he was walking independently three days after surgery, and a follow-up CT scan one month later showed normal lung function in both sides.
Why Adult CDH Is So Rare—And Dangerous
CDH affects about 1 in 2,000–3,000 live births, but adult cases are extremely uncommon. Studies suggest 25–50% of adult CDH cases are found accidentally during imaging for other issues. Symptoms, when present, can include chronic chest pain, abdominal bloating, or intermittent nausea—or nothing at all. This makes adult CDH easy to misdiagnose, as seen in this patient’s five-year delay in diagnosis.
Left untreated, CDH poses serious risks: the diaphragm defect can grow over time, and herniated organs may become incarcerated (trapped) or strangulated (lose blood supply)—both life-threatening complications. For this reason, doctors recommend surgery even for asymptomatic patients. Laparoscopic repair, as used here, offers low mortality and recurrence rates—key for long-term recovery.
The Takeaway for Patients and Doctors
This case underscores the importance of considering rare hernias when evaluating adults with chest or abdominal pain. X-rays and CT scans are critical for diagnosis, as they can reveal herniated bowel loops or diaphragm abnormalities that physical exams might miss. For patients, symptoms like pain that worsens when lying down (which increases abdominal pressure) should prompt further testing—even if trauma is not present.
The case was reported by Hui-Hui Chen, Yan Chen, Jin-Hui Zhu, Yi-Ding Chen, and Jiao-Jiao Zhou from the Department of Surgical Oncology and General Surgery at the Second Affiliated Hospital of Zhejiang University School of Medicine, and the Key Laboratory of Cancer Prevention and Intervention (Ministry of Education), Hangzhou, China. Radiologists Liang-Ji Lu and Xiao-Jun Xu contributed to the imaging diagnosis.
Written informed consent was obtained from the patient for the use of his clinical information and images. Every effort was made to protect his identity, though anonymity cannot be guaranteed.
This case was originally published in the Chinese Medical Journal (2019;132(6):731–732). Additional sources cited in the study include:
- Bosenberg AT, Brown RA. Management of congenital diaphragmatic hernia. Curr Opin Anaesthesiol 2008;21:323–331. doi: doi.org/10.1097/ACO.0b013e3282f9e214
- Gujar A, Rodrigues DD, Patil K, Tambe U, Sinha S, Bhushan A. Rare case report – congenital diaphragmatic hernia presentation in adult. Indian J Surg 2013;75(Suppl 1):44–46. doi: doi.org/10.1007/s12262-011-0321-7
- Schumacher L, Gilbert S. Congenital diaphragmatic hernia in the adult. Thorac Surg Clin 2009;19:469–472. doi: doi.org/10.1016/j.thorsurg.2009.08.004
- Pillai SA, Chinnappan S. Congenital right morgagni hernia presenting in an adult—a case report. Indian J Surg 2016;78:238–240. doi: doi.org/10.1007/s12262-015-1400-y
Original study DOI: doi.org/10.1097/CM9.0000000000000135
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