To the Editor: Multiple bile duct hamartoma [von Meyenburg complex (VMC)] is a benign liver malformation that includes biliary cystic lesions with congenital hepatic fibrosis causing ductal plate malformations (1–7). It is generally asymptomatic and tends to be identified either at autopsy or during histological examinations (1). We report a very rare case of severe portal hypertension caused b...

The association of congenital hepatic fibrosis (CHF) with autosomal recessive polycystic kidney disease (ARPKD) is well known and occurs in approximately 50% of cases. However the association of CHF with autosomal dominant polycystic kidney disease (ADPKD) is less well known and less well documented. We report a child with neonatal onset of hypertension due to ADPKD who later develops portal hy...

Description of the eviDence collection methoD The literature review of scientific articles in this guideline was held in the databases Medline, Cochrane and SciELO. The search for evidence came from actual clinical scenarios and used keywords (MeSH terms) grouped in the following syntax: adult dominant polycystic kidney disease; adult recessive polycystic kidney disease; PKD mutation; PKDH1 mut...

Multiple fistulous communications between the left anterior descending coronary artery and the left ventricle were found in a 55 year old woman with congenital hepatic fibrosis presenting with breathlessness. At cardiac catheterisation severe pulmonary hypertension was also found. In view of the persistent hypoprothrombinaemia, severe thrombocytopenia, and the multiple fistulas the risk of oper...

Corresponding author : Haeryoung Kim Department of Pathology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, 82 Gumi-ro 173-beon-gil, Bundang-gu, Seongnam 463-707, Korea Tel. +82 31-787-7715, Fax. +82 31-787-4012 E-mail; [email protected] Abbreviations: BilIN, biliary intraepithelial neoplasia; CD, Caroli's disease; CHF, congenital hepatic fibrosis...

We describe a case of Leber's amaurosis in a one-year-old girl with unusual presentations. She presented with small clue like tachypnea and nystagmoid novement of eyeswhich when pursued revealed involvement like hepatic, renal and retina.