Late Presentation of Congenital Diaphragmatic Hernias – Report of 3 Cases

Background

Most congenital diaphragmatic hernias (CDH) are diagnosed during routine prenatal screening and present after birth requiring fast intervention. The incidence of CDH is about 1–2: 4 000 with a slight male predominance (Baglaj M, et al. Pediatr Radiol 2005; 35: 478–4882). 4% of children with CDH die in utero, and 30% within the first month of life. The mortality of late-presenting CDHs (late CDH) is about 6% (Baglaj M. Pediatr Surg Int 2004; 20: 658–669). The main reason for this difference is that CDHs in the newborn period require urgent intervention regarding ventilation, oxygenation and perfusion of the hypoplastic lung whereas patients with late CDH have adapted to their condition (van den Hout L, et al. Neonatology 2010; 98: 370–380; Kitano Y, et al. J Pediatr Surg 2005; 40: 1 839–1 843).

Additional anomalies, mainly cardiac and pulmonary abnormalities, can be found in over 40% of the cases in the neonatal period but only in 8–16.5% late CDH. About 2.5% of CDH are diagnosed after the newborn period. Half of all late CDHs are recognized within the first year of life but 5% of all cases are diagnosed in adults ([Table 1]) (Baglaj M. Pediatr Surg Int 2004; 20: 658–669).

Tab. 1 CDH after the newborn period – age at diagnosis.

≤1 year	46.5%
1–5 years	31.8%
5–18 years	16.7%
≥ 18 years	Ca. 5%

Presentation of CDH after the first month of life is more variable. Respiratory and gastrointestinal symptoms are characteristic but up to 11% of cases may be asymptomatic (Kitano Y, et al. J Pediatr Surg 2005; 40: 1839–1843). Patients with late CDH tend to have a smaller diaphragmatic defect.