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Denouement and Comment: Late Presentation of Congenital Diaphragmatic Hernia
An emergent laparotomy uncovered a smooth-edged, nontraumatic left posterolateral Bochdalek congenital diaphragmatic hernia (CDH) with the spleen, stomach, and a knuckle of the splenic flexure of the left colon up in the chest. Surgeons pulled back all of the herniated organs into the abdomen and repaired the diaphragm. No hernial sac was seen. No traumatic injuries or other anomalies were evident. The patient recovered uneventfully and was discharged 5 days postoperatively.
The CDH is an uncommon defect (1 of 2200-5000 live births) that leads to herniation of the abdominal viscera into the thoracic cavity.1It is typically diagnosed in the immediate perinatal period, usually presenting as profound respiratory distress during the first hours to days of life.2Late-presenting or late-onset CDH represents 5% to 25% of CDH cases.3,4The clinical features of late-presenting CDH are nonspecific, overlap with many other pathologic manifestations, and often lead to misdiagnoses.3,5Symptoms include abdominal pain, nausea, vomiting, dysphagia, chest pain, and dyspnea.3,5Asymptomatic CDH may be diagnosed incidentally when chest radiography is performed for other reasons.5,6
In this case, the differential diagnosis included a pneumothorax or diaphragmatic rupture secondary to trauma, eventration of the diaphragm, and late-presenting CDH. Diaphragmatic ruptures occur with serious traffic crashes, crushing injuries, falls, and physical abuse.7Patients typically present with multiple injuries.7,8The absence of severe external injuries in this case was inconsistent with trauma typically associated with diaphragmatic rupture. Eventration of the diaphragm is a condition in which the diaphragm retains its continuity and attachments to the costal margins but is permanently elevated either due to stretching and thinning of the muscle or paralysis.9Differentiation between eventration and rupture or CDH can be made by looking at previous chest radiographic scans, computed tomographic scans, or with diagnostic laparoscopy.10Findings on chest radiography that suggest rupture or herniation include an interrupted, indistinct, or elevated hemidiaphragm, bowel loops, air-fluid levels in the lung space, and, if inserted, a displaced nasogastric tube.6Chest radiography after insertion of a nasogastric tube increases diagnostic sensitivity for left-sided injuries to approximately 75%.11
Many investigators use upper gastrointestinal contrast studies to aid in diagnosing CDH in older children.5The sensitivity of computed tomography for diagnosis of diaphragmatic pathology ranges from 33% to 83%; specificity lies between 76% and 100%.12Pulmonary effusions, pneumonia, and pneumothorax have often been confused with late-presenting CDH.6Misguided treatment to drain the chest has led to iatrogenic punctures of displaced abdominal organs.6Although the variable symptoms of late-presenting CDH may be confounding and mimic other common pediatric disorders, its prompt diagnosis is critical. Herniation, complicated by strangulation and gangrene, can cause morbidity and mortality as high as 66% to 80%.13,14Immediate surgery is the appropriate treatment.
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Correspondence:Jason Nirgiotis, MD, Department of Pediatrics, 1400 S Coulter St, Texas Tech University Health Sciences Center, Amarillo, TX 79106 (email@example.com).
Accepted for Publication:September 25, 2008.
Author Contributions:Study concept and design: Akangire, Benjamin, and Nirgiotis. Acquisition of data: Akangire and Kulkarni. Analysis and interpretation of data: Akangire. Drafting of the manuscript: Akangire and Kulkarni. Critical revision of the manuscript for important intellectual content: Akangire, Benjamin, and Nirgiotis. Administrative, technical, and material support: Akangire and Kulkarni. Study supervision: Benjamin and Nirgiotis.
Financial Disclosure:None reported.
Additional Contributions:Candace Myers, PhD, provided valuable help in editing the manuscript.
Picture of the Month—Diagnosis. Arch Pediatr Adolesc Med. 2009;163(6):584. doi:10.1001/archpediatrics.2009.86-b
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