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!

References