Lily did extremely well following the surgery. After 2 months, chest radiography was repeated, and the results were normal with no evidence of CDH. During this time, she was feeding and growing well, with only minimal vomiting. The patient again underwent chest radiography at approximately age 18 months, and the results were normal. She continues to eat well and gain weight, with no respiratory issues.
A presentation of CDH at age 6 weeks is later than the typical onset. Most cases of CDH are diagnosed in the perinatal/neonatal period, and most are detected on prenatal ultrasound by a mean gestational age of 24 weeks.1 The reported incidence of CDH varies from 1 in 5000 live births to 1 in 2000 births if stillbirths are included.2 The majority of infants with CDH experience severe respiratory distress within the first hours of life.2
A provider who is treating pediatric patients needs to keep CDH in the differential diagnosis when an infant or child is in respiratory distress but also should be aware that with a delayed onset, nonspecific symptoms may be present, especially gastrointestinal symptoms. The earlier CDH is diagnosed, the better the outcome of surgical intervention. Chest radiography is usually diagnostic,2 but other medical imaging modalities, such as computed tomography, may be required depending on the individual case.
Late presentation of CDH was once considered rare, but an increasing number of reports now show that CDH is diagnosed in up to 25% of patients after the neonatal period, with a better outcome.3 Many patients present with a wide array of respiratory and gastrointestinal symptoms, but at least 25% are asymptomatic, and the condition is often diagnosed incidentally on chest radiographic images.3
CDH is generally considered to result from defective formation and fusion of the pleuroperitoneal membranes, which provide a potential passage through which abdominal contents can herniate into the thorax.1 The left side is more commonly affected because of earlier closure of the right pleuroperitoneal area and a protective effect of the liver developing in the septum transversum.1 Herniation of a solid organ, such as the liver or spleen, can be a risk factor for misdiagnosis on medical imaging in late-presenting CDH in children because the typical appearance of bowel herniation can be obscured.1
During an acute presentation of CDH, management of the respiratory symptoms is extremely important. Blow-by oxygen or bag masking can lead to gastric and abdominal distension and compression of the lung, so a patient presenting with severe respiratory distress should be intubated and ventilated with low-peak inspiratory pressure to minimize lung injury.1
To stabilize the patient further, a nasogastric tube should be placed and connected to continuous suction to decompress the abdominal contents and decrease respiratory compromise.1 If additional respiratory management is needed, then extracorporeal membrane oxygenation (ECMO) should be considered.
Thoracoscopic or laparoscopic approaches to repair CDH with a late presentation have been described.1 In a study of 20 patients conducted by Hamid et al and published in 2014 in the African Journal of Paediatric Surgery, repair with Vicryl suture material was possible in 19 patients, and only 1 patient required a polypropylene mesh graft for a large defect.3 As mentioned earlier, a thoracoscopic approach was used in the patient in this case to repair a CDH on the left side, which is more commonly affected. As in any patient with a CDH, it is important to diagnose the condition early and repair it as soon as possible.
Chad R. Stough, MPAS, PA-C, works as a physician assistant at West Atlanta Pediatrics in Dallas, Georgia.
- Chan HY, Wong CC, Ng F. Late-presenting congenital diaphragmatic hernia: a potentially life threatening case. Hong Kong J Emerg Med. 2009;16(2):102-105.
- Hartman GE. Congenital diaphragmatic hernia. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, PA: WB Saunders; 2004:1353-1355.
- Hamid R, Baba AA, Shera AH, et al. Late-presenting congenital diaphragmatic hernia. Afr J Paediatr Surg. 2014;11(2):119-123.