[Skip to Navigation]
Sign In
Special Feature
Oct 2012

Picture of the Month—Diagnosis

Author Affiliations


Arch Pediatr Adolesc Med. 2012;166(10):960. doi:10.1001/archpedi.166.10.960

Denouement and Discussion: Congenital Diaphragmatic Hernia

The patient's chest radiograph shows a congenital diaphragmatic hernia (CDH) with herniation of bowel loops (Figure [arrow]) into the right hemithorax, shifting the heart and mediastinum to the left side. A relatively gasless abdomen is also observed. To rule out diaphragmatic eventration, an ultrasonogram was obtained that confirmed the presence of a posterior right-sided CDH. The right lobe of the liver was not herniated. There was no associated hydrothorax, nor were there ascites.

A CDH affects 1 in every 2000 to 4000 live births.1 Most of the cases occur sporadically, and usually no familial link can be identified. However, there have been reports of familial cases with autosomal recessive, autosomal dominant, and X-linked inheritance patterns; a karyotype may also show chromosomal anomalies.2-4 This well-known structural anomaly is diagnosed prenatally in about 50% of cases. A CDH occurred on the left side in 88% of cases, on the right side in 10% of cases, and bilaterally in 2% of cases. Although a CDH is usually a disorder that occurs in newborns, up to 10% of cases have occurred after this newborn period and may even occur during adulthood. The classic presentation of patients with CDH is the development of respiratory distress in the first few hours or days of birth; this respiratory distress is due to a defect in the muscular portion or the tendon of the diaphragm, to pulmonary hypoplasia, and to pulmonary hypertension.5 A late presenting CDH may manifest as dyspnea, chest pain, abdominal pain, nausea, vomiting, and dysphagia. The diagnosis is occasionally noted incidentally during chest radiography performed for symptoms unrelated to the CDH.6,7 With the surgical repair of a diaphragmatic defect, whether during the first 24 hours or later, nearly half of the patients with a prenatally or postnatally diagnosed CDH can survive.8 On the other hand, the outcome for patients with a late presentation of CDH is extremely good, with low or no mortality.1

An association with other organ malformations is seen in nearly 40% of cases. Cardiac anomalies are the most common organ malformations associated with CDH9,10; in the present case, a patent foramen ovale was observed during echocardiography. In addition, spinal, gastrointestinal, chromosomal, and pulmonary malformations are also associated with CDH.9,11,12 In our Figure, scoliosis (double-headed arrow), hemivertebrae (asterisks), and diaphragmatic hernia (arrow) are readily seen on the chest radiograph. The abnormal positioning of the stomach may be helpful in differentiating a CDH from those few cases of congenital pulmonary airway malformation, previously known as congenital cystic adenomatoid malformation, in which the cysts are large enough to mimic the air-filled intestinal loops. In congenital pulmonary airway malformation of the lungs, the stomach and bowel are in normal position and have a normal appearance.13 Although most CDHs (90%) occur on the left side, there is no relation between the side of a CDH and the presence of a major anomaly.9

At the time of hospital admission, the patient was in good general condition with no respiratory distress, cardiac failure, or developmental difficulty. The patient underwent surgical repair and had an uneventful postoperative recovery.

Return to Quiz Case.

Back to top
Article Information

Correspondence: Seyed Behzad Jazayeri, MD, Children's Medical Center, Tehran University of Medical Sciences, Poursina Ave Keshavarz Blvd, Tehran 1417613151, Iran (s.b.jazayeri@gmail.com).

Accepted for Publication: June 14, 2012.

Author Contributions:Study concept and design: Jazayeri. Acquisition of data: Shahlaee. Drafting of the manuscript: Jazayeri. Critical revision of the manuscript for important intellectual content: Shahlaee. Study supervision: Shahlaee.

Financial Disclosure: None reported.

Samangaya RA, Choudhri S, Murphy F, Zaidi T, Gillham JC, Morabito A. Outcomes of congenital diaphragmatic hernia: a 12-year experience.  Prenat Diagn. 2012;32(6):523-52922499217PubMedGoogle ScholarCrossref
Tazuke Y, Kawahara H, Soh H,  et al.  Congenital diaphragmatic hernia in identical twins.  Pediatr Surg Int. 2000;16(7):512-51411057555PubMedGoogle ScholarCrossref
Narayan H, De Chazal R, Barrow M, McKeever P, Neale E. Familial congenital diaphragmatic hernia: prenatal diagnosis, management, and outcome.  Prenat Diagn. 1993;13(10):893-9018309897PubMedGoogle ScholarCrossref
Gibbs DL, Rice HE, Farrell JA, Adzick NS, Harrison MR. Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis.  J Pediatr Surg. 1997;32(2):366-3689044155PubMedGoogle ScholarCrossref
Veenma DC, de Klein A, Tibboel D. Developmental and genetic aspects of congenital diaphragmatic hernia.  Pediatr Pulmonol. 2012;47(6):534-54522467525PubMedGoogle ScholarCrossref
Zeina AR, Weiner D, Reindorp N, Kassem E, Klein-Kremer A. Late presentation of congenital right diaphragmatic hernia: clinical and radiological features.  Pediatr Int. 2011;53(5):790-79121955020PubMedGoogle ScholarCrossref
Akangire G, Kulkarni A, Benjamin B, Nirgiotis J. Picture of the month: late presentation of congenital diaphragmatic hernia.  Arch Pediatr Adolesc Med. 2009;163(6):583-58419487616PubMedGoogle ScholarCrossref
Skari H, Bjornland K, Haugen G, Egeland T, Emblem R. Congenital diaphragmatic hernia: a meta-analysis of mortality factors.  J Pediatr Surg. 2000;35(8):1187-119710945692PubMedGoogle ScholarCrossref
Bedoyan JK, Blackwell SC, Treadwell MC, Johnson A, Klein MD. Congenital diaphragmatic hernia: associated anomalies and antenatal diagnosis: outcome-related variables at two Detroit hospitals.  Pediatr Surg Int. 2004;20(3):170-17615064962PubMedGoogle ScholarCrossref
Graziano JN.Congenital Diaphragmatic Hernia Study Group.  Cardiac anomalies in patients with congenital diaphragmatic hernia and their prognosis: a report from the Congenital Diaphragmatic Hernia Study Group.  J Pediatr Surg. 2005;40(6):1045-1049, discussion 1049-105015991194PubMedGoogle ScholarCrossref
Fauza DO, Wilson JM. Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact on prognosis.  J Pediatr Surg. 1994;29(8):1113-11177965516PubMedGoogle ScholarCrossref
Grethel EJ, Farrell J, Ball R, Lee H, Nobuhara KK. Congenital diaphragmatic hernia associated with spinal anomalies.  Obstet Gynecol. 2007;109(2, pt 2):485-48817267867PubMedGoogle ScholarCrossref
Graham G, Devine PC. Antenatal diagnosis of congenital diaphragmatic hernia.  Semin Perinatol. 2005;29(2):69-7616050524PubMedGoogle ScholarCrossref