Ali Syed Rehan, Ahmed Shakeel
Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi.
J Coll Physicians Surg Pak. 2016 Dec;26(12):995-996.
Congenital diaphragmatic hernia (CDH) is a rare birth defect with a prevalence of < 0.5 per 1,000 live births. Majority of these defects are left-sided as most studies suggest that frequency of right-sided CDH was 10% of the total. The association of CDH with myelomeningocele (MMC) is extremely rare; as in Sweed's study of 116 consecutive cases of CDH, the incidence of associated MMC with CDH was stated as 4.3%. There has been one previous case report of leftsided CDH, MMC and hydrocephalus prenatally diagnosed; but to the best of authors' knowledge, this is the first reported case of the above constellation with a right-sided CDH diagnosed prenatally.
先天性膈疝（CDH）是一种罕见的出生缺陷，发病率低于每1000例活产儿中有0.5例。这些缺陷大多数为左侧，因为大多数研究表明右侧CDH的发生率占总数的10%。CDH与脊髓脊膜膨出（MMC）的关联极为罕见；如在Sweed对116例连续CDH病例的研究中，CDH合并MMC的发生率为4.3%。此前曾有一例产前诊断为左侧CDH、MMC和脑积水的病例报告；但据作者所知，这是第一例产前诊断为上述组合且为右侧CDH的报告病例。
