| Institution: | (1) Department of Pediatrics, Kumamoto University School of Medicine, 1-1-1 Honjo, Kumamoto 860-8556, Japan;(2) Kumamoto City Hospital, 1-1-60 Koto, Kumamoto 862–8505, Japan;(3) Division of Molecular Pathology, Graduate School of Medical Science, Kumamoto University School of Medicine, 1-1-1 Honjo, Kumamoto 860-8556, Japan |
| Abstract: | We examined a newborn who had no bile and pancreatic ducts. Hydrops was evident after 29 weeks of gestation and she died shortly after birth, weighing 1,368 g. One of her siblings had died of hydrops at about six months of gestation, and there were two more miscarriages of unknown cause. At autopsy on the newborn, the liver had an abnormally round shape and the pancreas was not in the normal position. There was an ectopic small pancreas with normally developed islets. Histological analysis revealed the complete absence of extra- and intra-hepatic bile and pancreatic ducts. Immunostaining of these tissues showed no positive bile duct marker staining using epithelial membrane antigen and cytokeratin 19 in the liver. Albumin and  -fetoprotein staining was positive in the liver, and insulin and glucagon staining was positive in the remaining islets. Thus, this case is characterized by complete absence of bile and pancreatic ducts. These findings suggest the existence of a gene linked to the development of bile and pancreatic ducts. |
