Venkatachala Sandhya, Sivaraman Ammu
Department of Pathology, PSG Institute of Medical Sciences & Research, PSG Hospitals, Peelamedu, Coimbatore, India.
Fetal Pediatr Pathol. 2011;30(5):350-4. doi: 10.3109/15513815.2011.587499. Epub 2011 Aug 15.
Meckel syndrome is a lethal autosomal recessive disorder characterized by the triad of cystic renal dysplasia, occipital encephalocele, or other anomaly of the central nervous system and post-axial polydactyly. Malformation of the ductal plate is an integral component of Meckel syndrome. Ductal plate malformations include congenital hepatic fibrosis, biliary hamartoma, autosomal dominant polycystic liver disease, Caroli disease, and choledochal cyst. The occurrence of cystic hepatic disease, Caroli disease, and choledochal cyst have not been highlighted. This is a report of a 26-week fetus with features of Meckel syndrome, Caroli disease, and choledochal cyst.
梅克尔综合征是一种致死性常染色体隐性疾病,其特征为多囊性肾发育不良、枕部脑膨出或其他中枢神经系统异常以及轴后多指畸形三联征。导管板畸形是梅克尔综合征的一个重要组成部分。导管板畸形包括先天性肝纤维化、胆管错构瘤、常染色体显性多囊肝病、卡罗利病和胆总管囊肿。囊性肝病、卡罗利病和胆总管囊肿的发生情况尚未得到充分关注。本文报告一例具有梅克尔综合征、卡罗利病和胆总管囊肿特征的26周胎儿。