Prenatal diagnosis of familial type I choledochal cyst

Pediatrics. 2006 Mar;117(3):e596-600. doi: 10.1542/peds.2005-1411. Epub 2006 Feb 1.

Abstract

Familial choledochal cysts are extremely rare. High-resolution ultrasound now allows for the antenatal diagnosis of these anomalies. After delivery, elective surgical resection should be planned; however, increases in size, deterioration of liver function, and ascending cholangitis frequently force early intervention. We report an unusual occurrence of siblings with type I choledochal cysts and review the existing literature on cause, genetics, classification, diagnosis, and management of this disease.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Choledochal Cyst / diagnostic imaging*
  • Choledochal Cyst / genetics*
  • Choledochal Cyst / surgery
  • Female
  • Fetal Diseases / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Ultrasonography, Prenatal*