Abstract
BackgroundWe 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 presentationCase 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.ConclusionsAttention should be paid to chromosomal abnormality in cases in which the coexistence of congenital diaphragmatic hernia and abdominal wall closure defect are observed.
Highlights
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
Attention should be paid to chromosomal abnormality in cases in which the coexistence of congenital diaphragmatic hernia and abdominal wall closure defect are observed
In 2006, Harmath et al reported a 9 to 11 % incidence of congenital diaphragmatic hernia (CDH) associated with an abdominal wall defect that was higher than the frequencies given in the reports just cited [10]
Summary
We treated two cases of CDH associated with an abdominal wall defect. Coexistence of these anomalies is rare and may be associated with septum transversum diaphragmatic defects or Fryns syndrome. In neonates with abdominal wall defects and chromosomal abnormalities, we need to pay attention to the possible coexistence of CDH (which may be concealed). Authors’ contributions SI performed the surgical treatment of patients and was a major contributor in writing this manuscript. AO and YM performed the pediatric surgical treatment. AO and YB contributed and helped to draft this manuscript. HS and MT performed the neonatal intensive treatment of the patients and helped to draft this manuscript.
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