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!

References

Comberiati P1, Giacomello L, Camoglio FS, Peroni DG. Diaphragmatic hernia in a pediatric emergency department. Pediatr Emerg Care. 2015 May;31(5):354-6. PMID: 25931340. [PubMed] [Read by QxMD]
Bandré E1, Wandaogo A, Ouedraogo I, Napon M, Béré B, Kabré Y, Lamita Tapsoba TW, Ouédraogo FS. Left posterolateral strangulated congenital diaphragmatic hernia in children: About a case at the Charles de Gaulle Paediatric Teaching Hospital in Ouagadougou (Burkina Faso). Afr J Paediatr Surg. 2015 Jan-Mar;12(1):79-81. PMID: 25659558. [PubMed] [Read by QxMD]
Al Ghafri M1, Al Sidairi I1, Nayar M1. Late presentation of congenital diaphragmatic hernia: a case report. Oman Med J. 2014 May;29(3):223-5. PMID: 24936275. [PubMed] [Read by QxMD]
Wu CT1, Huang JL, Hsia SH, Lin JJ, Lai SH. Late-presenting congenital diaphragmatic hernia in pediatric emergency room: two case reports. Eur J Pediatr. 2009 Aug;168(8):1013-5. PMID: 19011899. [PubMed] [Read by QxMD]
Zaleska-Dorobisz U1, Bagłaj M, Sokołowska B, Ładogórska J, Moroń K. Late presenting diaphragmatic hernia: clinical and diagnostic aspects. Med Sci Monit. 2007 May;13 Suppl 1:137-46. PMID: 17507899. [PubMed] [Read by QxMD]
Midrio P1, Gobbi D, Baldo V, Gamba P. Right congenital diaphragmatic hernia: an 18-year experience. J Pediatr Surg. 2007 Mar;42(3):517-21. PMID: 17336190. [PubMed] [Read by QxMD]
Blackstone MM1, Mistry RD. Late-presenting congenital diaphragmatic hernia mimicking bronchiolitis. Pediatr Emerg Care. 2007 Sep;23(9):653-6. PMID: 17876258. [PubMed] [Read by QxMD]
Paut O1, Mély L, Viard L, Silicani MA, Guys JM, Camboulives J. Acute presentation of congenital diaphragmatic hernia past the neonatal period: a life threatening emergency. Can J Anaesth. 1996 Jun;43(6):621-5. PMID: 8773870. [PubMed] [Read by QxMD]
Nitecki S1, Bar-Maor JA. Late presentation of Bochdalek hernia: our experience and review of the literature. Isr J Med Sci. 1992 Oct;28(10):711-4. PMID: 1399500. [PubMed] [Read by QxMD]
Berman L1, Stringer D, Ein SH, Shandling B. The late-presenting pediatric Morgagni hernia: a benign condition. J Pediatr Surg. 1989 Oct;24(10):970-2. PMID: 2809967. [PubMed] [Read by QxMD]
Berman L1, Stringer D, Ein SH, Shandling B. The late-presenting pediatric Bochdalek hernia: a 20-year review. J Pediatr Surg. 1988 Aug;23(8):735-9. PMID: 3171843. [PubMed] [Read by QxMD]

Sean M. Fox

I enjoy taking care of patients and I finding it endlessly rewarding to help train others to do the same. I trained at the Combined Emergency Medicine and Pediatrics residency program at University of Maryland, where I had the tremendous fortune of learning from world renowned educators and clinicians. Now I have the unbelievable honor of working with an unbelievably gifted group of practitioners at Carolinas Medical Center. I strive every day to inspire my residents as much as they inspire me.

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