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 continuously improved upon by countless contributing members. Our dedicated editors oversee each edit for accuracy and style. Find out more about articles.
704 results found
Article
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...
Article
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...
Article
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...
Article
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...
Article
Leontiasis ossea
Leontiasis ossea is largely a historical term used to describe a number of conditions that result in the affected patient's face resembling that of a lion. Although it is most frequently associated with craniofacial fibrous dysplasia, it has a broader meaning encompassing other lesions that have...
Article
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...
Article
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...
Article
Vernet syndrome
Vernet syndrome, also known as jugular foramen syndrome, is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion, such as a jugular paraganglioma, schwannoma, or metastasis 2.
Clinical presentation
It consists of motor paralysis of:
glossopharyngeal nerve ...
Article
Adie syndrome
Adie syndrome, also known as Holmes-Adie syndrome, is a rare neurological disorder.
Epidemiology
Adie syndrome is a rare condition that is most commonly seen in young females in their fourth decade of life 2,3.
Clinical presentation
Patients most commonly present with a classic triad of:
di...
Article
Progeria
Progeria is a term used for any syndrome in which a person is prematurely aged, however, it most commonly refers to Hutchinson-Gilford progeria syndrome (HGPS), not to be confused with Hutchinson syndrome.
Radiographic features
Although the primary clinical manifestations of progeria include s...
Article
Hyperimmunoglobulin IgE syndrome
Hyperimmunoglobulin E (hyper IgE) syndrome (HIES), also known as Job syndrome, consists of a heterogeneous group of complex hereditary combined B- and T-cell immune deficiency diseases characterized by recurrent Staphylococcus aureus chest infections, characteristic coarse facial appearance and ...
Article
Pronator teres syndrome
Pronator teres syndrome (also called pronator syndrome) is one of three common median nerve entrapment syndromes; the other two being anterior interosseous nerve syndrome and the far more common carpal tunnel syndrome. Signs and symptoms result from compression of the median nerve in the upper f...
Article
Catel-Manzke syndrome
Catel-Manzke syndrome is a digitopalatal syndrome initially described in 1961. Inheritance pattern is unknown. Radiographic findings include micronagthia and accessory ossicles at the bases of the metacarpals.
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
Trousseau syndrome
Trousseau syndrome is an inconsistently defined entity which broadly represents the association between thromboembolism and malignancy, often prior to or concomitantly with the diagnosis of the underlying malignancy 1.
The syndrome has been variably defined to include entities such as migratory...
Article
Enchondromatosis
Enchondromatosis, also known as Ollier disease (see Terminology section), is a non-hereditary, sporadic, skeletal disorder characterized by multiple enchondromas principally located in the metaphyseal regions.
Terminology
Some authors make a distinction between Ollier disease and enchondromato...
Article
Lennox-Gastaut syndrome
Lennox-Gastaut syndrome is an epileptic encephalopathy characterized by refractory childhood-onset epilepsy accompanied by intellectual disability and psychiatric/behavioral disturbance.
Epidemiology
Lennox-Gastaut syndrome is thought to represent 1-2% of all patients with epilepsy 6. The cond...
Article
Dravet syndrome
Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is a rare form of epilepsy usually presenting in the first 1-2 years of life.
Clinical presentation
The typical presentation occurs during the first six months to one year of life as tonic-clonic seizures (includ...
Article
Shrinking lung syndrome
Shrinking lung syndrome refers to a rare thoracic complication of systemic lupus erythematosus (SLE) characterized by:
unexplained dyspnea
restrictive pattern on pulmonary function tests
elevated hemidiaphragm
Epidemiology
As with SLE in general, it is thought to carry a increased female pr...
Article
Top of the basilar syndrome
Top of the basilar syndrome, also known as rostral brainstem infarction, occurs when there is thromboembolic occlusion of the top of the basilar artery. This results in bilateral thalamic ischemia due to occlusion of perforator vessels.
Clinical presentation
Clinically, top of the basilar synd...
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