Congenital Diaphragmatic Hernia: A Case Report and Literature Review

Congenital Diaphragmatic Hernia (CDH) is a rare developmental abnormality of the diaphragm with an incidence of approximately 2.5 cases per 10,000 births. Despite advances in treatment, mortality and long-term morbidity among survivors remain high.

A newborn was delivered by planned caesarean section due to prenatal diagnosis of CDH, diagnosed at 18 weeks and 5 days (Correction 3.1) during routine ultrasound. The Observed-to-Expected (O/E) Lung area-to-Head circumference Ratio (LHR) was 52%. After birth, the newborn was in respiratory distress and required mechanical invasive ventilation. Surgical repair was planned after stabilisation for the second day of life. A subcostal laparotomy was performed, and an anteromedial hernia with mostly small intestine, the left colon flexure and the spleen as content was found. The abdominal contents were reduced, and the hernia was repaired with a suture. Due to the development of a severe pulmonary hypertension, extubation was only possible on the fifth postoperative day, but reintubation was needed. The patient remained in the intensive care unit for a total of 25 days and could be discharged 46 days after birth in a good condition.

When treating patients with CDH, the most feared complication is pulmonary hypertension, which can be life-threatening and refractory to treatment. Surgical repair should be postponed until the newborn is medically stable.

CDH presents a diagnostic and therapeutic challenge. When diagnosed prenatally, patients should be referred to a tertiary centre for a multidisciplinary approach.