Late-Presenting Congenital Diaphragmatic Hernia

Part of the challenge with evaluating children is the ever present concern for an unusual emergent condition masquerading as a common condition with non-specific symptoms. It is, thus, important for us to remain vigilant for these conditions, while proceeding in a reasonable fashion (ie, not ordering 8 millions tests on everyone). Many conditions (ex, Osteosarcoma, Inborn Errors of Metabolism, Aspirated FB) may be initially misdiagnosed. When evaluating a child who has respiratory distress or vomiting the differential diagnosis lists can be quite long and include some of these sneaky conditions (ex, Myocarditis, Heart Failure). Let’s take a moment to review another condition that may mimic others – Late Presenting Congenital Diaphragmatic Hernia:

Congenital Diaphragmatic Hernia: Basics

  • Congenital Diaphragmatic Hernia (CDH) occurs in ~1 in 3,000 live births.
  • Most cases are diagnosed via antenatal screening or shortly after birth.
    • In utero herniation of abdominal contents into the hemithorax leads to pulmonary hypoplasia (no room for lungs to develop). [Blackstone, 2007]
    • Respiratory distress develops at birth or within hours/days following birth (based on extent of herniation).
    • CDH has a high mortality rate when presenting during new-born or neonatal period. [Blackstone, 2007]
  • CDH has a male predominance (2:1).
  • Congenital Diaphragmatic Hernia may present after the neonatal period and can be more challenging to diagnose.

Late Presenting Congenital Diaphragmatic Hernia

  • 5-25% of patients with CDH present beyond neonatal period. [Blackstone, 2007]
  • Can present across a wide range of ages:
    • 5 weeks to 14 years! [Comberiati, 2015]
    • Depends on timing of visceral herniation. [Wu, 2009]
  • Believed to be due to: [Blackstone, 2007]
    • Pre-existing Congenital Diaphragmatic Hernia being blocked by adjacent solid organ (ie, Liver or Spleen);
    • A condition that increases intra-abdominal pressure (ex, vomiting, coughing, crying);
    • Intra-abdominal contents then herniate into thorax;
    • Symptoms due to degree of herniation.
  • Late presenting CDH may present: [Comberiati, 2015; Bandre, 2015; Wu, 2009]
    • Acutely (~60% of cases)
    • Insidiously
      • Recurrent / intermittent symptoms
      • Persistent tachypnea, chronic cough, constipation, failure to thrive [Blackstone, 2007]
  • Late presenting CDH is difficult to diagnose due to non-specific symptoms: [Comberiati, 2015; Al Ghafri, 2014;Blackstone, 2007; Midrio, 2007; Berman, 1988]
    • Respiratory Symptoms
      • Dyspnea, Wheeze, Cough, Tachypnea
      • More often seen with RIGHT sided CDH. [Blackstone, 2007]
    • Gastrointestinal Symptoms
      • Abdominal Pain, Vomiting, Diarrhea
      • More often seen with LEFT sided CDH. [Blackstone, 2007]
    • Combination of Respiratory and Gastrointestinal Symptoms.
  • Prompt diagnosis is important. [Comberiati, 2015]
    • Reduce risk of small bowel strangulation.
    • Cardiorespiratory arrest has also been reported.
  • Overall, the morbidity and mortality of late presenting congenital diaphragmatic hernia is low once appropriately managed. [Comberiati, 2015; Wu, 2009]
    • Lungs developed correctly so there is not concurrent pulmonary hypoplasia or pulmonary hypertension.
    • Survival is excellent following surgical repair. [Al Ghafri, 2014; Blackstone, 2007; Midrio, 2007]

Late Presenting CDH: Evaluation

  • Non-specific presentations may lead to misdiagnosis and inappropriate treatments. [Comberiati, 2015; Wu, 2009; Blackstone, 2007]
    • Most consistent clinical feature of late presenting CDH is Asymmetric, Decreased Breath Sounds. [Comberiati, 2015]
    • May be confused with pneumothorax and chest tubes have been inappropriately placed. [Comberiati, 2015; Wu, 2009]
    • Antecedent viral illness with subsequent respiratory distress may lead to misdiagnosis of pneumonia or bronchiolitis. [Comberiati, 2015; Wu, 2009]
  • Chest X-Ray is recommend as 1st diagnostic study.
    • Initial radiographic features can be misinterpreted in ~25% of cases.
    • Detection of CDH can be improved by placement of gastric tube which may highlight herniated stomach. [Wu, 2009]
  • Contrasted Upper GI series is an alternative method. [Zaleska-Dorobisz, 2007]
  • CT imaging is recommended to confirm the diagnosis. [Comberiati, 2015]

Moral of the Morsel

  • Not all that wheezes is asthma! Add Late Presenting Congenital Diaphragmatic Hernia to the DDX of children with respiratory distress.
  • Don’t stick a chest tube into the intestines! This is obvious… but can be tempting when patient has respiratory distress, decreased breath sounds, and odd looking chest x-ray. Slow down and look closely!
  • A Gastric Tube can help! It will help decompress the stomach and improve symptoms as well as help with the diagnostic imaging!
  • Vomiting may occur do to an internal hernia… including diaphragmatic hernia!


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Sean M. Fox
Sean M. Fox
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