Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report

Paucity of biliary ducts: A rare etiology of neonatal cholestasis.

We report a case of a newborn with cholestasis that was diagnosed as nonsyndromic Alagille syndrome. The main feature of the disease is a paucity of biliary ducts. There are two known types of the disease: the syndromic type which is associated with other congenital defects and the nonsyndromic type without other anomalies detected at birth. We describe the case and discuss its clinical and rad...

Screening of targeted genes in extrahepatic bile ducts of mice with experimental biliary atresia.

Biliary atresia (BA) is an infantile disease resulting from a severe cholangiopathy, which can obstruct extrahepatic bile ducts, disrupt bile flow and lead to end‑stage cirrhosis. The current study aimed to develop a genetic method to investigate the pathogenesis of BA. The gene expression profile of BA (GSE46967) was downloaded from the Gene Expression Omnibus database and included 18 samples ...

A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report

BACKGROUND Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndro...

The management of a cystic hepatic lesion ruptured in the bile ducts: a case report

BACKGROUND Hepatic cystadenoma is a rare benign cystic tumor; it tends to recur after incomplete surgical resection and has malignant potential. We report the case of a patient with a ruptured biliary cystadenoma in the common bile duct that caused diagnostic and therapeutic problems. CASE PRESENTATION A 34-year-old North African woman, admitted for angiocholitis, was operated 2 months before...

Congenital atresia of the bile ducts.