Chee Yuet Yee, Wong Siu Chun Mabel, Wong Ming Sum Rosanna
Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong.
BMJ Case Rep. 2017 Aug 7;2017:bcr-2017-220696. doi: 10.1136/bcr-2017-220696.
We reported a rare case of left-sided posterolateral congenital diaphragmatic hernia (CDH) and omphalocele, which is not associated with chromosomal abnormalities or other syndromes. Omphalocele was detected antenatally (CDH was not detected in antenatal ultrasound). The patient suffered from respiratory failure secondary to severe pulmonary hypertension. As the combination of CDH and omphalocele is rare and with the abdominal content herniating into the omphalocele instead of the thorax, antenatal diagnosis of such condition can be difficult. Unlike other reported cases in the literature, our patient's respiratory condition has been improving with time and is surviving beyond the infancy period. We believe this to be the first such survival case reported in the literature.
我们报告了一例罕见的左侧后外侧先天性膈疝（CDH）合并脐膨出病例，该病例与染色体异常或其他综合征无关。脐膨出在产前被检测到（产前超声未检测到CDH）。患者因严重肺动脉高压继发呼吸衰竭。由于CDH和脐膨出的组合罕见，且腹部内容物疝入脐膨出而非胸腔，产前诊断这种情况可能具有挑战性。与文献中其他报道的病例不同，我们患者的呼吸状况随着时间推移一直在改善，并且存活至婴儿期之后。我们认为这是文献中报道的首例此类存活病例。
