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...
Article
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...