Articles

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704 results found
Article

Facial colliculus syndrome

Facial colliculus syndrome refers to a constellation of neurological signs due to a lesion at the facial colliculus, involving: abducens nerve (CN VI) nucleus facial nerve (CN VII) fibers at the genu medial longitudinal fasciculus Clinical presentation lower motor neuron facial nerve palsy ...
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Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome (BHDS), also known as folliculin gene-associated syndrome, is a multi-system disease characterized by: cutaneous manifestations, typically fibrofolliculomas multiple lung cysts and spontaneous pneumothoraces increased risk of renal tumors, typically chromophobe oncocyt...
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Right middle lobe syndrome

Right middle lobe syndrome refers to chronic right middle lobe collapse, usually without an obstructing lesion (but not always). It is usually with associated bronchiectasis.  Epidemiology Right middle lobe syndrome is usually encountered in older adults, with a predilection for women (see Lad...
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Inferior vena cava obstruction

Inferior vena cava obstruction, also known as inferior vena cava syndrome, refers to the clinical manifestations occurring as a result of any blockage in the inferior vena cava. It can occur due to external compression, thrombosis of inferior vena cava or iatrogenic placement of filters 1. Certa...
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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...
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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 ...
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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...
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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...
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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...
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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)...
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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...
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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...
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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...
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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,...
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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...
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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...
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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...
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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...

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