Late-presenting congenital diaphragmatic hernia: diagnostic pitfalls and outcome

We sought to review the presentation, diagnosis, and outcome of a series of children with late-presenting, congenital diaphragmatic hernias (CDH).

Bochdalek and Morgagni hernias that were diagnosed after 30 days of age, between January 1989 and December 2009, were reviewed retrospectively. A medical record review and telephone survey were conducted in 2010.

Thirty-one subjects, diagnosed with CDH between 45 days and 13 years of age (mean, 16 months), were reviewed. Bochdalek hernias were present in 18 (58%) and Morgagni hernias in 13 (42%). There were twenty (64%) left-sided, eight (26%) right-sided, and three (10%) bilateral CDH. Five (16%) had other congenital anomalies. Eight (25.8%), including a subject with strangulated intestine that required resection, were initially misdiagnosed, due mostly to failure to obtain or correctly interpret a chest radiograph. Thirty (97%) were repaired by an abdominal approach, including seven laparoscopic closures. Follow-up ranged from 1 to 20 years (median, 7 years). All subjects survived without recurrence. Unlike neonatally diagnosed CDH, neither right-sided hernia, patch repair, nor associated esophageal atresia predicted morbidity.

Although diagnostic delays may lead to morbidity, if late-presenting CDH are expeditiously identified and repaired, their outcome is very good, in contrast to those that present in neonates.