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

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.

Rare combination of left-sided congenital diaphragmatic hernia and omphalocele

“…The combination of CDH and omphalocele had been reported as a component of syndromes, such as Fryns syndrome or pentalogy of Cantrell 6. Chromosomal abnormalities such as trisomy 137 and trisomy 183 had been reported as well. However, our patient presented here belongs to the non-syndromal group.…”

Analysis of data of complex prenatal examination in cases of gastroschisis in the fetus

“…Найчасті ше зустрічаються вади розвитку центральної нервової системи, серця, сечостатевої системи, шлунково кишкового тракту, досить частолицьові розщелини, патологія кісткової систе ми [4,6,12]. Хромосомна патологія у плодів із гастрошизисом визначається в поодиноких випадках -опубліковано повідомлення про діагностику трисомії 21, 18 та інших аномалій у плодів та новонароджених із гастрошизисом [4,5,15,23].…”

Diaphragmatic hernia in an adult cadaver: a case report

“…Only 2% of it is estimated to be familial which could be autosomal dominant, autosomal recessive or X -linked. In neonates with abdominal wall defects and chromosomal abnormalities, we need to pay attention to the possible coexistence of CDH (INOUE, ODAKA, MUTA et al, 2016). CDH is not due to single gene mutation (BUDI, SHAILAJA, GANGA et al, 2013).…”