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Special Feature
June 1, 2009

Picture of the Month—Diagnosis

Arch Pediatr Adolesc Med. 2009;163(6):584. doi:10.1001/archpediatrics.2009.86-b

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.

Return to Quiz Case.

Correspondence:Jason Nirgiotis, MD, Department of Pediatrics, 1400 S Coulter St, Texas Tech University Health Sciences Center, Amarillo, TX 79106 (jason.nirgiotis@ttuhsc.edu).

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.

Moreno  CNIovanne  BA Congenital diaphragmatic hernia: part I.  Neonatal Netw 1993;12 (1) 19- 30PubMedGoogle Scholar
Blackstone  MMMistry  R Late-presenting congenital diaphragmatic hernia mimicking bronchiolitis.  Pediatr Emerg Care 2007;23 (9) 653- 656PubMedGoogle ScholarCrossref
Berman  LStringer  DEin  SHShandling  B The late-presenting pediatric Bochdalek hernias: a 20-year review.  J Pediatr Surg 1988;23 (8) 735- 739PubMedGoogle ScholarCrossref
Newman  BMAfshani  EKarp  MPJewett  TC  JrCooney  DR Presentation of congenital diaphragmatic hernia past the neonatal period.  Arch Surg 1986;121 (7) 813- 816PubMedGoogle ScholarCrossref
Kitano  YLally  KPLally  PACongenital Diaphragmatic Hernia Study Group, Late-presenting congenital diaphragmatic hernia.  J Pediatr Surg 2005;40 (12) 1839- 1843PubMedGoogle ScholarCrossref
Bagłaj  MDorobisz  U Late-presenting congenital diaphragmatic hernia in children: a literature review.  Pediatr Radiol 2005;35 (5) 478- 488PubMedGoogle ScholarCrossref
Friedlaender  ETsarouhas  N Traumatic diaphragmatic rupture in a pediatric patient: a case report.  Pediatr Emerg Care 2003;19 (5) 340- 342PubMedGoogle ScholarCrossref
Meyers  BFMcCabe  CJ Traumatic diaphragmatic hernia: occult marker of serious injury.  Ann Surg 1993;218 (6) 783- 790PubMedGoogle ScholarCrossref
Christensen  P Eventration of the diaphragm.  Thorax 1959;14311- 319PubMedGoogle ScholarCrossref
Gatzinsky  PLepore  V Surgical treatment of a large eventration of the left diaphragm.  Eur J Cardiothorac Surg 1993;7 (5) 271- 274PubMedGoogle ScholarCrossref
Perlman  SJRogers  LMintzer  RMueller  C Abnormal course of nasogastric tube in traumatic rupture of left hemidiaphragm.  AJR Am J Roentgenol 1984;142 (1) 85- 88PubMedGoogle ScholarCrossref
Schumpelick  VSteinau  GSchluper  IPrescher  A Surgical embryology and anatomy of the diaphragm with surgical applications.  Surg Clin North Am 2000;80 (1) 213- 239, xiPubMedGoogle ScholarCrossref
Christiansen  LABlichert-Toft  MBertelsen  S Strangulated diaphragmatic hernia: a clinical study.  Am J Surg 1975;129 (5) 574- 578PubMedGoogle ScholarCrossref
Hegarty  MMBryer  JVAngorn  IBBaker  LW Delayed presentation of traumatic diaphragmatic hernia.  Ann Surg 1978;188 (2) 229- 233PubMedGoogle ScholarCrossref