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.
702 results found
Article
Androgen insensitivity syndrome
Androgen insensitivity syndrome (AIS), also known as testicular feminization syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings.
Epidemiology
The incidence may vary depending on whether it is co...
Article
Alport syndrome
Alport syndrome is a hereditary disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
Clinical presentation
hematuria
sensorineural hearing loss: typically high frequency 2
ocular abnormalities
anterior lenticonus which may result in c...
Article
Sturge-Weber syndrome
Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis or encephalofacial angiomatosis, is a phakomatosis characterized by facial port-wine birthmark (capillary malformation) and pial angiomas.
It is part of a wide spectrum of possible phenotypes included in the cerebrofacial ar...
Article
Postaxial polydactyly
Postaxial polydactyly refers to polydactyly where the additional digit is on the ulnar margin of the hand, or lateral to the 5th (little) toe.
Epidemiology
Postaxial polydactyly is more common than preaxial polydactyly, with an estimated incidence of 1 in 3000 5.
Associations
trisomy 13
Bar...
Article
Polydactyly
Polydactyly (less commonly called hyperdactyly) refers to the situation where there are more than the usual number of digits (five) in a hand or foot. It can be broadly classified as:
preaxial polydactyly: extra digit(s) towards the thumb/hallux (radially)
postaxial polydactyly: extra digit(s)...
Article
Pelvic varices
Pelvic varices are dialated viens in broad ligaments and ovarian plexus and when is associated with chronic pelvic pain it is called pelvic congestion syndrome (some prefer pelvic venous insufficiency 9) is a condition that results from retrograde flow through incompetent valves in ovarian veins...
Article
Ataxia-telangiectasia
Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a rare multisystem autosomal recessive disorder, sometimes classified as a phakomatosis. It is characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections, and immunodeficiency.
On brain imaging, it usually demo...
Article
Conus medullaris syndrome
Conus medullaris syndrome is caused by an injury or insult to the conus medullaris and lumbar nerve roots. It is a clinical subset of spinal cord injury syndromes. Injuries at the level of T12 to L2 vertebrae are most likely to result in conus medullaris syndrome.
Clinical presentation
Patient...
Article
Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome is a rare spectrum of disorders with an autosomal dominant pattern of inheritance 6. The syndrome incorporates all of 5:
Axenfeld anomaly: posterior embryotoxon and peripheral irido-corneal adhesions
Rieger anomaly: findings of Axenfeld anomaly along with corectopia (m...
Article
Von Hippel-Lindau disease
Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3.
Epidemiology
The disease is rare with an estimated prevalence of 1:35,000-50,...
Article
Trichorhinophalangeal syndrome type II
Trichorhinophalangeal syndrome type II, also known as Langer-Giedion syndrome, is an extremely rare autosomal dominant genetic disorder.
Pathology
The effects are seen mainly on the skeletal system and primarily involves
hair: "tricho-"
nose: "rhino-"
digits of the hands and feet: "-phalang...
Article
Cerebral hyperperfusion syndrome
Cerebral hyperperfusion syndrome is a rare complication seen after treatment of long-standing severe carotid stenosis by carotid endarterectomy or carotid artery stenting. It is believed to be the result of failure of normal cerebral blood flow autoregulation.
Terminology
Cerebral hyperperfus...
Article
Long COVID-19
Long COVID-19 also known as post-acute sequelae of SARS-CoV-2 infection (PASC) or post COVID-19 condition, is a post-viral syndrome affecting people who have recovered from COVID-19 infection. Symptoms are similar to those experienced by patients with chronic inflammatory response syndrome (CIRS...
Article
Amnestic syndrome of the subcallosal artery
Amnestic syndrome of the subcallosal artery describes an acute amnestic syndrome secondary to ischemic stroke affecting the subcallosal artery which leads to infarction of the bilateral fornices.
Epidemiology
The exact incidence of amnestic syndrome of the subcallosal artery is not known, but ...
Article
Acute respiratory distress syndrome
Acute respiratory distress syndrome (ARDS) is a form of acute lung injury and occurs as a result of a severe pulmonary injury that causes alveolar damage heterogeneously throughout the lung. It can either result from a direct pulmonary source or as a response to systemic injury.
This is a disti...
Article
Milwaukee shoulder
Milwaukee shoulder refers to a destructive shoulder arthropathy due to the deposition of hydroxyapatite crystals, and identification of these crystals in synovial fluid is the cornerstone of diagnosis.
Epidemiology
Milwaukee shoulder frequently affects older women, often with a history of trau...
Article
Cytokine release syndrome
Cytokine release syndrome refers to the overwhelming release of cytokines by T-cells or other immune effector cells in the absence of immunomodulation, which can result in severe systemic inflammation, coagulopathy, and multiorgan dysfunction 4. Severe manifestation of cytokine release syndrome ...
Article
Löffler syndrome
Simple pulmonary eosinophilia (also known as Löffler syndrome) is a type of pulmonary eosinophilia that typically presents with transient radiographic infiltrates, minimal constitutional upset, and an elevated eosinophil count in peripheral blood.
Pathology
Etiology
The cause is not usually i...
Article
Morquio syndrome
Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV.
Epidemiology
Incidence estimated at ~1:40,000.
Clinical presentation
Many cases present at ~2 years of age and have normal intelligence. Cl...
Article
Aicardi-Goutières syndrome
Aicardi-Goutières syndrome is a rare hereditary neurodegenerative disease which usually presents in early infancy as a systemic and central nervous system inflammatory syndrome characterized by hepatosplenomegaly, vasculopathy and encephalopathy. Many of the features are similar to congenital TO...
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