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The late-presenting congenital diaphragmatic hernia (CDH) represents a considerable diagnostic challenge. This study was undertaken to define various patterns of delayed presentation and to analyze pitfalls in the diagnosis and treatment of these patients. Thirty-three children with CDH were treated between 1993 and 2000; 15 of these (45.5%) who were diagnosed after the age of 2 months-14 years, median of 2.5 years are reported. Thirteen had a Bochdalek hernia and 2 had a Morgagni hernia. The diaphragmatic defect was right-sided in 6 cases and left-sided in 9. Five patients presented acutely, 3 with respiratory distress and 2 with gastrointestinal (GI) obstruction. The remaining 10 presented with chronic respiratory or GI complaints. Inappropriate insertion of a chest drain occurred in 3 patients misdiagnosed as having pleural effusion (2) and a pneumothorax (1). Two patients had previous chest radiographs reported normal. Plain radiographs were sufficient to make a definitive diagnosis in only 6 patients; GI contrast studies were necessary in the other 9. All patients were treated through an abdominal approach with primary closure of the diaphragmatic defect without a patch. A distinct hernia sac was present in 6 cases, and associated malrotation in 6. All except 1 patient survived the operation with rapid improvement of their GI and respiratory symptoms. We conclude that: (1) late-presenting CDH should be included in the differential diagnosis of any child with persistent GI or respiratory problems associated with an abnormal chest X-ray film; (2) nasogastric tube placement must be considered as an early diagnostic or therapeutic intervention when the diagnosis is suspected; and (3) GI contrast studies should be a part of the diagnostic work-up of these patients.

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