Articles
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93 results found
Article
Lemierre syndrome
Lemierre syndrome (also known as postanginal septicemia) refers to thrombophlebitis of the internal jugular vein(s) with distant metastatic anaerobic septicemia in the setting of initial bacterial oropharyngeal infection such as pharyngitis/tonsillitis into lateral pharyngeal spaces of the neck ...
Article
Cogan syndrome
Cogan syndrome is a rare vasculitis of young adults that is primarily characterized by 1,4,6:
inflammatory eye disease (classically interstitial keratitis) 6
audiovestibular dysfunction (similar to Meniere disease) 6
Epidemiology
Cogan syndrome is rare and can occur in people of any age and ...
Article
Superior semicircular canal dehiscence syndrome
Superior semicircular canal dehiscence syndrome (SCDS) is an inner ear abnormality, where a clinical disequilibrium phenomenon is associated with the absence of the bony covering of the superior semicircular canal (SSCC).
Notably, this CT finding has also been described in ~10% of individuals w...
Article
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...
Article
Sotos syndrome
Sotos syndrome is an autosomal dominant syndrome considered as a form of cerebral gigantism, mainly characterized by prenatal and postnatal overgrowth.
Epidemiology
There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimated to...
Article
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...
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
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
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
Williams syndrome
Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterized by some or all of the following features:
craniofacial dysmorphism (e.g. elfin facies)
oral abnormalities
short stature (50% of cases)
mild to moderate intellectual disability
supravalvular aortic stenosis ...
Article
Collet-Sicard syndrome
Collet-Sicard syndrome, also known as condylar jugular syndrome, is a constellation of cranial nerve palsies due to neoplastic or non-neoplastic lesions at the jugular foramen 1,2.
Clinical presentation
Vernet syndrome, consisting of motor paralysis of
glossopharyngeal nerve (CN IX)
vagus ne...
Article
Sclerosteosis
Sclerosteosis is a rare autosomal recessive bone dysplasia resulting in sclerosis and hyperostosis, particularly of the skull, mandible and tubular bones. It is closely related to Van Buchem disease 1.
Epidemiology
Sclerosteosis is a very rare disease, with only around 100 cases reported. Ther...
Article
Posterior semicircular canal dehiscence syndrome
Posterior semicircular canal dehiscence syndrome (PSCD) is the presence of vestibuloauditory symptoms secondary to absence of the bony covering of the posterior semicircular canal (PSC).
Epidemiology
It is thought to be rare: in a case series of 112 patients with a high riding jugular bulb it ...
Article
Non-steroidal anti-inflammatory drug exacerbated respiratory disease
Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory disease refers to the clinical constellation of 1,2:
hypersensitivity to aspirin (and other NSAIDs)
nasal polyposis / rhinosinusitis
asthma
Terminology
Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory d...
Article
Sjögren syndrome
Sjögren syndrome, or Sjögren disease, is an autoimmune condition of the exocrine glands that produce tears and saliva.
Epidemiology
Sjögren syndrome is the second most common autoimmune disorder after rheumatoid arthritis. There is a recognized female predilection with F:M ratio of ~9:1. Patie...
Article
Treacher Collins syndrome
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant genetic abnormality and results from bilateral malformations of first and second branchial arches (see branchial apparatus).
Epidemiology
The incidence is estimated at approximately 1 in 50,000 live b...
Article
Sagliker syndrome
Sagliker syndrome is an uncommon bone condition, possibly a severe phenotype of renal osteodystrophy, marked by secondary hyperparathyroidism in patients suffering from chronic kidney disease associated with skull and facial deformities 1-4.
Epidemiology
Sagliker syndrome is a rare condition m...
Article
Tapia syndrome
Tapia syndrome , also called matador's disease, is a rare syndrome that is characterized by unilateral paralysis of the tongue and vocal cords. Although the problem typically occurs after anesthetic airway management or manipulation, it can be due to central causes in rare cases 11. The syndrom...
Article
Godtfredsen syndrome
Godtfredsen syndrome, also known as clival (clivus) syndrome, is a rare syndrome of abducens and hypoglossal nerve palsies that localizes to a clival mass.
Clinical presentation
The classic clinical presentation includes 1-3:
abducens nerve palsy: diplopia worse when horizontal gaze is direct...
Article
Morning glory syndrome (eye)
Morning glory disc anomaly (MGDA), also known as morning glory syndrome, is a rare congenital malformation of the optic nerve which is frequently associated with midline abnormalities of the brain and skull 1.
Epidemiology
Morning glory disc anomaly is rare and is more commonly found in female...