A 16-year-old boy with Down syndrome was referred for evaluation of nonspecific symptoms, including difficulty in breathing on standing up from a sitting position, dizziness, frequent abdominal pain, and diarrhea after ingesting fatty foods and milk. He had intermittent asthma exacerbations for which he occasionally used a β-agonist. He had no history of trauma, surgery, or allergies.
The patient was afebrile, pale, and in no apparent distress. Chest was symmetric, with no retractions. Peristalsis/bowel sounds were heard throughout the entire chest. Heart rate and rhythm were regular, without murmur. Bowel sounds were hyperactive.
An echocardiogram showed normal heart structure; however, a hollow viscus was noted anterior to the heart, suggestive of herniation of the bowel into the thoracic cavity.
A chest radiograph revealed a loop of bowel that extended up to the level of the aortic arch (A). An upper GI study showed upward herniation of the stomach body and antrum through the Morgagni aperture of the anterior diaphragm, along with the duodenal bulb, the second and third portions of the duodenum, and the transverse colon. Chest CT scans confirmed the presence of a large anterior diaphragmatic hernia containing peritoneal fat (B, C, and D). Morgagni hernia is a rare congenital diaphragmatic defect.1 No female or male preponderance has been reported. Although no specific etiology has been identified, Morgagni hernia has been associated with congenital heart disease, Down syndrome, omphaloceles, and GI and urinary anomalies.1
This hernia has an insidious onset and is usually diagnosed after the second decade of life. Patients often have vague or nonspecific symptoms, such as recurrent respiratory tract infections, persistent cough, vomiting, and reflux, which may contribute to delayed diagnosis.
Children with Down syndrome may be at greater risk for delayed detection. Morgagni hernia should be considered as a possible cause of respiratory distress in these patients.2
Early surgical consult is recommended to prevent complications, such as cardiac tamponade, strangulation, incarceration, and volvulus.
1. Quah BS, Menon BS. Down syndrome associated with retroperitoneal teratoma and Morgagni hernia. Clin Genet. 1996;50:232-234.
2. Parmar RC, Tullu MS, Bavdekar SB, Borwankar SS. Morgagni hernia with Down syndrome: a rare association—case report and review of literature. J Postgrad Med. 2001;47:188-190.