Coexistence of congenital diaphragmatic hernia and abdominal wall closure defect with chromosomal abnormality: two case reports

Abstract

Background: We reported two rare cases of congenital diaphragmatic hernia with abdominal wall closure defect, which were not associated with septum transversum diaphragmatic defects or Fryns syndrome.

Case presentation: Case 1: a Japanese baby boy was delivered at 37 weeks' gestation by urgent cesarean section because of the diagnosis of severe fetal distress. Congenital diaphragmatic hernia with omphalocele was prenatally diagnosed with fetal ultrasound. A ruptured omphalocele was confirmed at delivery. A silo was established on the day of his birth; direct closure of his diaphragmatic defect and abdominal wall closure was performed on the fifth day after his birth. Trisomy 13 was confirmed by genetic examination. His postoperative course was uneventful and he was discharged 5 months postnatally with home oxygen therapy. He was readmitted because of heart failure and died at 6 months. Case 2: a Japanese baby boy, who was prenatally diagnosed with gastroschisis, was delivered at 35 weeks' gestation by urgent cesarean section because of the diagnosis of fetal distress. Silo construction using a wound retractor was performed on the day of his birth and direct abdominal closure was performed on the tenth day after his birth. Trisomy 21 was confirmed by genetic examination. Treatment for his respiratory distress was continued after surgery. A retrosternal hernia was revealed at 6 months and direct closure of retrosternal diaphragm with the resection of hernia sac was performed. His postoperative course was uneventful and he was discharged with home oxygen therapy.

Conclusions: Attention should be paid to chromosomal abnormality in cases in which the coexistence of congenital diaphragmatic hernia and abdominal wall closure defect are observed.

Fig. 1

Fetal magnetic resonance imaging (a) and photograph at surgery (b) of Case 1. a Herniation of abdominal organs into the left pleural cavity (➩) and intestine into the umbilical cord (↓) were detected by magnetic resonance imaging at 34 weeks of gestation. b The spleen and small intestine were removed from the left pleural cavity and reduced into the abdomen (↓). Anterior, posterior, and left lateral posterior sides of diaphragm were formed but mediastinal side, especially around the esophageal hiatus of diaphragm, was defective (▼)

Fig. 2

Radiograph on day 161 of life (a) and photograph during direct closure of the diaphragm (b) in Case 2. a On day 161, intestinal gas was detected in the mediastinum (➩). b A retrosternal hernial orifice (▼) was observed at operation and the defect was closed directly