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14 results found

Bile sump syndrome

Bile sump syndrome refers to a complication following a side-to-side choledochoduodenostomy.  Epidemiology This complication occurs in ~1% of patients following a side-to-side choledochoduodenostomy.  Clinical presentation Recurrent abdominal pain, cholangitis, pancreatitis, or biliary obstr...

Budd-Chiari syndrome

Budd-Chiari syndrome, also known as hepatic venous outflow obstruction (HVOO), refers to the clinical picture that occurs when there is partial or complete obstruction of the hepatic veins. It is characterized on imaging by ascites, caudate hypertrophy, peripheral atrophy, and prominent collater...

Familial atypical multiple mole melanoma syndrome

Familial atypical multiple mole melanoma (FAMMM) syndrome is an autosomal dominant genodermatosis characterized by multiple melanocytic nevi (often more than 50) and a family history of melanoma. Pathology Genetics It is associated with mutations in the CDKN2A gene and shows reduced penetranc...

Glycogen storage disease

Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen. Pathology There are many types of GSD: type I: von Gierke disease type II: Pompe disease type III: Cori or Forbes disease type IV: Andersen di...

Gullo syndrome

Gullo syndrome, also known as benign pancreatic hyperenzymaemia, is characterized by the abnormal elevation of the serum levels of most or all of the pancreatic enzymes without any evidence of underlying pancreatic pathology. All other laboratory assays and imaging studies are unremarkable. Cli...

HELLP syndrome

HELLP syndrome is a pregnancy-related condition and is an abbreviation for: haemolysis elevated liver enzymes and  low platelets It is considered a severe and life-threatening form of pre-eclampsia although it can occur without co-existing pre-eclampsia.  Epidemiology The estimated inciden...

Hepatopulmonary syndrome

Hepatopulmonary syndrome (HPS) refers to the combination of hepatic dysfunction (cirrhosis) hypoxemia (alveolar-arterial O2 gradient of >15 mmHg; >20 mmHg in >64 years old patients) peripheral pulmonary arterial dilatation (due to right to left micro-shunts) Epidemiology It is estimated to ...

Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterized by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system. Epidemiology Worldwide prevalen...

Lemmel syndrome

Lemmel syndrome is defined as an obstructive jaundice caused by a periampullary duodenal diverticulum compressing the intrapancreatic common bile duct with resultant bile duct dilatation. Clinical presentation Patients may present with recurrent episodes of jaundice, pancreatitis and/or cholan...

Low phospholipid-associated cholelithiasis syndrome

Low phospholipid-associated cholelithiasis (LPAC) syndrome is one of the syndromes associated with ABCB4/MDR3 mutation. Characteristics of this syndrome include 1,2: intrahepatic microlithiasis/sludge symptomatic cholesterol stones with early onset (<40 years) recurrent symptoms post cholecys...

Mirizzi syndrome

The Mirizzi syndrome refers to an uncommon phenomenon which results in extrinsic compression of an extrahepatic biliary duct from one or more calculi within the cystic duct or gallbladder. It is a functional hepatic syndrome but can often present with biliary duct dilatation and can mimic other ...

Pepper syndrome

Pepper syndrome is of interest only (the term is not readily used in day-to-day practice), and refers to primary adrenal neuroblastoma with extensive liver metastases 1. In essence, it refers to stage 4S neuroblastoma (see staging of neuroblastoma). 

Stauffer syndrome

Stauffer syndrome is paraneoplastic nephrogenic hepatomegaly. It most commonly occurs in the setting of renal cell carcinoma, and is the enlargement of the liver without hepatic metastases. It is a cause of cholestasis and cholestatic jaundice.  History and etymology It is named after Maurice ...

Whipple triad

Whipple triad is the clinical presentation of pancreatic insulinoma and consists of: fasting hypoglycemia (<50 mg/dL) symptoms of hypoglycemia immediate relief of symptoms after the administration of IV glucose History and etymology The triad and also the Whipple procedure were both named a...

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