Articles

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62 results found
Article

Encapsulating peritoneal sclerosis

Encapsulating peritoneal sclerosis is a rare benign cause of acute or subacute small bowel obstruction. It is characterized by total or partial encasement of the small bowel within a thick fibrocollagenous membrane. Terminology The condition was originally termed abdominal cocoon. The conditio...
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Turcot syndrome

Turcot syndrome is a polyposis syndrome. It is characterized by multiple colonic polyps and an increased risk of colon cancer and primary brain cancers. Epidemiology Turcot syndrome is a rare disease. Patients typically present in the second decade 3. Pathology Turcot syndrome is characteriz...
Article

Bouveret syndrome

Bouveret syndrome refers to a gastric outlet obstruction secondary to impaction of a gallstone in the pylorus or proximal duodenum. Thus, it can be considered a very proximal form of gallstone ileus.  Clinical presentation Bouveret syndrome occurs most commonly in elderly women. The presenting...
Article

Serrated polyposis syndrome

Serrated polyposis syndrome (SPS), also called hyperplastic polyposis syndrome, is one of numerous polyposis syndromes and is characterized by the presence of multiple serrated polyps or a mixture of serrated and hyperplastic polyps, with the exact number required for diagnosis dependent on loca...
Article

Whipple triad

Whipple triad is the clinical presentation of pancreatic insulinoma and consists of: fasting hypoglycemia (<50 mg/dL or <2.7 mmol/L) symptoms of hypoglycemia immediate relief of symptoms after the administration of intravenous glucose History and etymology The triad and also the Whipple pro...
Article

Seatbelt syndrome

The seatbelt syndrome is the constellation of traumatic thoracic, abdominal and/or vertebral column injuries associated with three-point seatbelts 1,2: bowel perforation mesenteric tear sternal fracture lumbar spine fracture female breast trauma
Article

Carcinoid syndrome

Carcinoid syndrome refers to a spectrum of symptoms that result from excessive hormone (mainly serotonin) secretion.  Epidemiology Occurs equally between the sexes, most commonly in the 40-70 year age group 3. Clinical presentation Diarrhea is the most common and earliest symptom but others ...
Article

Allgrove syndrome

Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings: achalasia alacrima ACTH insensitivity
Article

Carney-Stratakis syndrome

Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastrointestinal stromal tumor (GIST). Terminology It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney co...
Article

Antiphospholipid syndrome

Antiphospholipid syndrome (APLS) is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischemic events occurring in patients with circulating antiphospholipid antibodies. Clinical presentation Antiphospholipid syndrome is characterized by ve...
Article

Hepatorenal syndrome

Hepatorenal syndrome refers to a form of acute kidney injury caused by changes in renal blood flow regulation due to liver pathology 1. Although the syndrome occurs mainly in cirrhotic livers it has been reported in patients with acute fulminant liver failure as well 1. Epidemiology The incide...
Article

Lane-Hamilton syndrome

Lane-Hamilton syndrome (LHS) refers to the rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease 1. Epidemiology It is typically seen in children under the age of 15 but can occasionally be seen in adults. History and etymology It was originally described by D ...
Article

Dumping syndrome

Dumping syndrome is a common complication following gastric, bariatric or esophageal surgeries. There are two types of dumping syndrome: early dumping syndrome postprandial hyperinsulinemic hypoglycemia (late dumping syndrome) Epidemiology Dumping syndrome occurs in approximately 12-40% of ...
Article

Down syndrome

Down syndrome (or trisomy 21) is the most common trisomy and also the commonest chromosomal disorder. It is a major cause of intellectual disability and has numerous additional multisystem manifestations. Epidemiology The approximate worldwide incidence is approximately 1 in 800 live births 15...
Article

Lemmel syndrome

Lemmel syndrome is defined as 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 cholangit...
Article

Zuelzer-Wilson syndrome

Zuelzer-Wilson syndrome, also known as total colonic aganglionosis, is a subset of Hirschsprung disease, in which the whole colon is aganglionic. Epidemiology It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3,7. Compared with Hirschsprung disease which has a marked male ...
Article

Abdominal compartment syndrome

Abdominal compartment syndrome is a disease defined by the presence of new end-organ dysfunction secondary to elevated intra-abdominal pressure. Radiological diagnosis is difficult and usually suggested when a collection of imaging findings are present in the appropriate clinical setting or if t...
Article

Li-Fraumeni syndrome

Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumor suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1. Associated malignancies sarcomas osteosarcoma rhabdomyosarcoma CNS tumors gliomas...
Article

PPP syndrome

PPP syndrome is the extremely rare association of pancreatitis, panniculitis, and polyarthritis. Epidemiology Most commonly affects middle-aged male patients with a history of heavy alcohol use 1,2.  Clinical presentation In the majority of cases, abdominal symptoms are mild or absent, makin...
Article

Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome. There are no formal diagnostic criteria for this disease, but characterist...

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