Associated malformations in delayed presentation of congenital diaphragmatic hernia

Delayed presentation of congenital diaphragmatic hernia (CDH) has been considered rare, and clinical manifestations differ from the more common newborn entity. Associated malformations in late-appearing CDH have been reported in a few patients. The authors reviewed their clinical experience to catalogue the frequency and clinical importance of associated malformations in patients with late-presenting CDH.

The records of patients greater than 1 month of age with Bochdalek type CDH treated in the authors' clinic, from 1991 to 2001, were retrospectively reviewed. Twenty patients (age range, 1 month to 10 years) were included in the study.

Associated malformations were documented in 16 of the patients (80%) and included malrotation in 12 patients, umbilical hernia in 2, pulmonary hypoplasia in 4, pulmonary sequestration in 1, gastroesophageal duplication cyst coexisting with polysplenia in 1, atrial septal defect and ventricular septal defect in 1, hydronephrosis in 1, wandering spleen in 1, talipes equinovarus in 1, and type I diabetes mellitus in 1.

The results of this study show a significant incidence and a wide spectrum of associated malformations. These findings suggest that patients with late CDH should be evaluated carefully for additional anomalies that may help to establish correct diagnosis and treatment.