Articles

Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

40 results found
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4D syndrome

4D syndrome is a term given to syndromic glucagonomas, a type of pancreatic endocrine tumour. D: dermatitis (necrolytic migratory erythema, often involving the groin) D: diabetes D: deep vein thrombosis D: depression
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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
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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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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...
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Buried bumper syndrome

Buried bumper syndrome (BBS) is a rare but important complication in patients with percutaneous endoscopic gastrostomy (PEG) tube, occurring by migration of the internal bumper along its track. The tube may get lodged anywhere between the gastric wall and the skin and lead to life-threatening co...
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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 Diarrhoea is the most common and earliest symptom but others...
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Carney triad

The Carney triad (not to be confused with the related Carney Stratakis syndrome, or the unrelated Carney complex) is a rare syndrome defined by the coexistence of three tumours: extra-adrenal paraganglioma (e.g. spinal paraganglioma) initially, only functioning extra-adrenal paragangliomas wer...
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Cavitary mesenteric lymph node syndrome

Cavitary mesenteric lymph node syndrome (CMNLS) is seen in association with coeliac disease and is characterised by the triad of: splenic atrophy  low-attenuation lymphadenopathy that sometimes contains fat-fluid levels villous atrophy
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CEC syndrome

CEC syndrome refers to the combination of coeliac disease, epilepsy and bilateral occipital calcifications. This is also known as Gobbi syndrome. Patients with cerebral calcifications and coeliac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1. Epidemiolog...
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Chilaiditi syndrome

Chilaiditi syndrome is the anterior interposition of the colon to the liver reaching the under-surface of the right hemidiaphragm with associated upper abdominal pain; it is one of the causes of pseudopneumoperitoneum. Colonic gas in this position may be misinterpreted as true pneumoperitoneum ...
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Cowden syndrome

Cowden syndrome, also known as multiple hamartoma syndrome, is characterised by multiple hamartomas throughout the body and increased risk of several cancers. Terminology Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden naevus, when it is considered a type o...
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Cronkhite–Canada syndrome

Cronkhite–Canada syndrome is a type of non-hereditary hamartomatous polyposis syndrome characterised by rash, alopecia, and watery diarrhea. Epidemiology There is a recognised male predilection. Patients typically are middle age, in their 60th 1. Clinical presentation Patients typically pres...
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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 also has numerous multi-system manifestations. Epidemiology According to the world health organisation (WHO), the approximate worldwide inci...
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Ebola virus disease

Ebola virus disease (EVD) (also known as Ebola haemorrhagic fever (EHF) or simply Ebola) is a viral haemorrhagic disease caused by the Ebola Filovirus. Ebola is an extremely virulent virus with case fatality rates of approximately 70% 1. Epidemiology First recognized in 1967 after polio vaccin...
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Ehlers-Danlos syndrome

Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease). Epidemiology There is a recognised male predominance. Clinical presentation Clinically manifests by skin hyperelasticity and fragility, joint hypermobility and blood vessel fr...
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Familial adenomatous polyposis syndrome

Familial adenomatous polyposis syndrome (FAPS) is characterised by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes. Terminology Familial polyposis coli, attenuated familial adenomatous polyposis and Gardner syndrome are all variants...
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Hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian cancer (HBOC) syndrome is caused by mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast canc...
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Hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia (HHT) is also known as Osler-Weber-Rendu syndrome. Epidemiology Worldwide prevalence ~1.5 per 100,000. Wide geographic variability with much higher incidence in certain regions, e.g. 1 in 200 in Dutch Antilles, 1 in 3500 in France. Clinical presentation ...
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Hereditary non-polyposis colorectal cancer

Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an inherited condition which predisposes to a host of malignancies, including colorectal carcinoma. It is considered the most frequent form of hereditary colorectal cancer. Diagnosis requires evaluation using cl...
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Heyde syndrome

Heyde syndrome is an association between aortic valve stenosis and gastrointestinal haemorrhage. The aetiology of the gastrointestinal bleeding in this setting is uncertain, but it is thought to be related to intestinal angiodysplasia. The strength of this association independent of age-related...
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Juvenile polyposis syndrome

Juvenile polyposis syndrome, also referred as familial juvenile polyposis, is one of the polyposis syndromes and consists of hundreds of juvenile polyps. Epidemiology Presentation in the second decade is most common 2. Clinical presentation Rectal bleeding, bowel obstruction and intussuscept...
Article

Lane-Hamilton syndrome

Lane-Hamilton syndrome (LHS) refers to the rare concurrent association of idiopathic pulmonary haemosiderosis and coeliac 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 ...
Article

Lemmel syndrome

Lemmel syndrome is defined as an obstructive jaundice caused by a periampullary duodenal diverticulum (of the second part of the duodenum) compressing the intrapancreatic part of the common bile duct with resultant upstream dilatation of the extra- and intrahepatic bile ducts. Clinical presenta...
Article

Multiple endocrine neoplasia type I

Multiple endocrine neoplasia (MEN) type I is also known as Wermer syndrome. Clinical presentation Primary hyperparathyroidism is one of the commonest presentations. Pathology The abnormality is related to a tumour suppressor gene located in chromosome 11q13. MEN type I is an autosomal domina...
Article

Niacin deficiency

Niacin (vitamin B3) deficiency, also known as Pellagra, is a multisystemic disease with manifestations from the skin, gastrointestinal tract and central nervous system.  Epidemiology It use to be widespread until the early twenty century, but after fortification of flour with niacin it is prac...
Article

Paraneoplastic syndromes

Paraneoplastic syndromes occur secondary to the indirect effects of a malignancy and occur remotely to the primary malignancy. Symptoms are mediated by cytokines, hormones or immune cross-reactivity. These syndromes can cause a diverse range of symptoms and can affect multiple systems. Epidemio...
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Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is one of the polyposis syndromes. It has an autosomal dominant inheritance and is characterised by: multiple hamartomatous polyps, most commonly involving the small intestine (predominantly the ileum), but also colon and stomach; mouth and oesophagus are spared mucocuta...
Article

Plummer-Vinson syndrome

Plummer-Vinson syndrome, also known as the Paterson-Brown-Kelly syndrome, predisposes to hypopharyngeal squamous cell carcinoma and consists of four features: dysphagia iron-deficiency anaemia weight loss oesophageal webs or hypopharyngeal webs The condition is more common in women.
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

Sclerosing encapsulating peritonitis

Sclerosing encapsulating peritonitis is a rare benign cause of acute or subacute small bowel obstruction. It is characterised by total or partial encasement of the small bowel within a thick fibrocollagenous membrane. Terminology The condition was originally termed abdominal cocoon. It has als...
Article

Seatbelt syndrome

The seatbelt syndrome is the constellation of traumatic injuries associated with three-point seatbelts: bowel perforation mesenteric tear sternal fracture lumbar spine fracture
Article

Segmental arterial mediolysis

Segmental arterial mediolysis (SAM) is an increasingly recognised vascular disease of the middle-aged and elderly and a leading cause of spontanoeus intra-abdominal haemorrhage. It is characterised by fusiform aneurysms, stenoses, dissections and occlusions within splanchnic arterial branches. I...
Article

Serrated polyposis syndrome

Serrated polyposis syndrome (SPS), also called hyperplastic polyposis syndrome, is characterised by the presence of multiple serrated polyps or a mixture of serrated and hyperplastic polyps, with the exact number required for diagnosis dependent on location and family history. SPS has an hetero...
Article

Spigelian-cryptorchidism syndrome

Spigelian-cryptorchidism syndrome is the association of Spigelian hernias and cryptorchidism in children.  Pathology It is reported that ~50% (range 28-75%) range of paediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2.  Along with Spigelian hernia and cryptorch...
Article

Superior mesenteric artery syndrome

Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, is a rare acquired vascular compression disorder in which acute angulation of superior mesenteric artery (SMA) results in compression of the third part of the duodenum leading to obstruction. It should not be confused wit...
Article

Turcot syndrome

Turcot syndrome is one of the variations in polyposis syndromes. Epidemiology Patients typically present in the second decade 3. Pathology Turcot syndrome  is characterised by: intestinal polyposis CNS tumours: most commonly glioblastoma or medulloblastoma Genetics It is thought to carry...
Article

Von Hippel-Lindau disease

Von Hippel-Lindau (vHL) disease is characterised by the development of numerous benign and malignant tumours in different organs (at least 40 types 1) due to mutations in the VHL tumour suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-5...
Article

Whipple triad

Whipple triad is the clinical presentation of pancreatic insulinomas and consists of: fasting hypoglycemia (<50 mg/dl) symptoms of hypoglycemia immediate relief of symptoms after the administration of IV glucose History and etymology As a good piece of trivia, one would suspect that Whipple...
Article

Zollinger-Ellison syndrome

Zollinger-Ellison syndrome (ZES) is a clinical syndrome that occurs secondary to a gastrinoma.  Clinical presentation Diagnosis of ZES is often delayed by 5-7 years after the onset of symptoms 2.  Pathology Gastrinomas are usually multiple and typically located in the duodenum (more common) ...
Article

Zuelzer-Wilson syndrome

The Zuelzer-Wilson syndrome (total colonic aganglionosis) is a subset of Hirschsprung disease, in which the whole colon is aganglionic. It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3. Multiple procedures have been devised to treat the condition, including proctocolectom...

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