Articles

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More than 200 results
Article

Crouzon syndrome

Crouzon syndrome, also known as craniofacial dysotosis, is rare disorder characterized by premature craniosynostoses.  Pathology Features include: abnormal calvarial shape: in severe case can give a "cloverleaf skull"  shallow orbits with exophthalmos mid facial hypoplasia bifid uvula Gen...
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Little league shoulder

Little league shoulder is thought to occur due to overuse damage of the proximal humeral epiphysis/metaphysis, seen typically in young baseball players, especially pitchers. Epidemiology Although it is most commonly seen in baseball players particularly in pitchers, it also presents in adolesc...
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Rosai-Dorfman disease

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman-Destombes disease, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes. Epidemiology The disease predominantly occurs in young adults with a mean age at pre...
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Acute coronary syndrome

Acute coronary syndrome (ACS) is a group of cardiac diagnoses along a spectrum of severity due to the interruption of coronary blood flow to the myocardium, which in decreasing severity are: ST elevation myocardial infarction (STEMI) non-ST elevation myocardial infarction (NSTEMI) unstable an...
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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...
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McKusick Kaufman syndrome

McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterized by hydrometrocolpos - vaginal atresia post-axial polydactyly congenital heart disease
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COACH syndrome

The acronym COACH describes a syndrome associated with: C: cerebellar vermis defect (Joubert syndrome) O: oligophrenia A: ataxia C: coloboma H: hepatic fibrosis Epidemiology COACH syndrome is considered extremely rare. Associations The association with infantile polycystic kidney diseas...
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Cockayne syndrome

Cockayne syndrome is a rare autosomal recessive dysmyelinating disease. Cockayne syndrome is classified among the childhood leukodystrophies, and brain imaging findings are cardinal features suggesting the diagnosis of Cockayne syndrome. Previously published Cockayne syndrome imaging studies hav...
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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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Morgagni-Stewart-Morel syndrome

Morgagni-Stewart-Morel syndrome​ consists of the triad of: hyperostosis frontalis interna obesity excessive hair growth (virilism/hirsutism) and is also associated with neuropsychiatric conditions. The cause is unclear.  History and etymology It was first described in 1765 by the Italian ...
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Spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses.  Clinical presentation short neck short trunk with protruding abdomen  normal IQ spine atlantoaxial instability craniovertebral junction stenosis platyspondyly scoliosis exag...
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Excessive lateral pressure syndrome

Excessive lateral pressure syndrome or lateral patellar compression syndrome is the abnormal lateral tilt of the patella without lateral translation 1 and is considered one of the relatively common causes of anterior knee pain. Epidemiology Excessive lateral pressure syndrome can affect both a...
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Ulnar styloid impaction syndrome

Ulnar styloid impaction syndrome refers to wrist pain due to a long ulnar styloid process impacting upon the triquetral bone. Pathology An ulnar styloid >6 mm in length is commonly regarded as being long. Impaction results in chondromalacia of the opposing articular surfaces, i.e. the proximal...
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Gradenigo syndrome

Gradenigo syndrome consists of the triad of: suppurative otitis media with persistent otorrhea and ear pain abducens nerve palsy, secondary to involvement of the nerve as it passes through Dorello canal retro-orbital pain, or pain in the cutaneous distribution of the frontal and maxillary div...
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Rett syndrome

Rett syndrome is a rare neurodegenerative disease seen in young girls in the 2nd to 4th months of life. The majority of cases result from a mutation in the MECP2 gene; a more severe subset of the disease arises from a CDKL5 mutation 1. Clinical presentation Following a period of normal develop...
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Hunter syndrome

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II) is a rare genetic mucopolysaccharidosis disorder characterized by specific clinical features 1. Epidemiology Hunter syndrome is an X-linked recessive disease and therefore much more common in males. It is a rare disorder wit...
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Radial tunnel syndrome

Radial tunnel syndrome is an entity that refers to entrapment (tunnel syndrome) of the radial nerve in the forearm, as it occurs in the supinator syndrome. Some authors believe this is an early form of the posterior interosseous nerve syndrome 5. Epidemiology There may be a female predilection...
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Pudendal nerve entrapment syndrome

Pudendal nerve entrapment (PNE) syndrome is a rare and under-diagnosed condition associated with chronic pain, sexual dysfunction and impaired sphincter control due to pudendal nerve compression. Clinical presentation PNE commonly manifests as neuropathic pain in the genitals, perineum or anus...
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Parkes Weber syndrome

Parkes Weber syndrome or less commonly F P Weber syndrome is a traditional eponymous denomination of a certain type of angiodysplasia, that would nowadays rather be called a mixed hemolymphatic congenital vascular malformation (CVM) with arteriovenous (AV) shunting, based on the Hamburg classifi...
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Hemolytic uremic syndrome

Hemolytic uremic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterized by the triad of renal failure, hemolytic anemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.  There are two forms of this syndrom...

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