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.
More than 200 results
Article
Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID)
Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) is a triad of congenital cerebral anomalies.
Radiographic features
markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morphology ultrasound.
inte...
Article
CLOVES syndrome
CLOVES syndrome is an acronym denoting a rare condition consisting of:
Congenital Lipomatous Overgrowth
Vascular malformations
Epidermal nevi
Skeletal/Scoliosis/Spinal anomalies
Terminology
Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal ...
Article
Pallister-Hall syndrome
Pallister-Hall syndrome displays a wide range of severity and is characterized by hypothalamic hamartomas seen as a mass at the floor of the third ventricle, posterior to the optic chiasm 3,4.
Epidemiology
Pallister-Hall syndrome is rare and the exact prevalence is unknown. Patients with posta...
Article
Lady Windermere syndrome
Lady Windermere syndrome refers to a pattern of pulmonary Mycobacterium avium complex (MAC) infection seen typically in elderly white women who chronically suppress the normal cough reflex. A fastidious nature and a reticence to expectorate are believed to predispose such persons to infections w...
Article
CHEDDA syndrome
CHEDDA syndrome stands for congenital hypotonia, epilepsy, developmental delay and digital anomalies. Is a newly discovered neurodevelopmental syndrome associated with mutations in a conserved histidine-rich motif within Atrophin-1 (ATN-1).1
Epidemiology
CHEDDA syndrome is very rare, with only...
Article
Hypomelanosis of Ito
Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is the third most frequent phakomatosis, involving a wide spectrum of defects in multiple organ systems.
Epidemiology
The prevalence is unknown, being reported as between 1 per 8000 patients in a general pediatric hospital ...
Article
Amelia
Amelia refers to a skeletal dysplasia characterized by the complete agenesis of an upper or lower extremity or all four limbs. It may be associated with other congenital anomalies, i.e. omphalocele and diaphragmatic hernias 3.
Epidemiology
Amelia is a very rare congenital anomaly with an incid...
Article
Complex regional pain syndrome
Complex regional pain syndrome (CRPS), also known as Sudeck atrophy, is a condition that can affect the extremities in a wide clinical spectrum. No one imaging study is sensitive or specific to rule in or rule out the syndrome.
Terminology
Two forms of complex regional pain syndrome have been...
Article
Trotter syndrome
Trotter syndrome relates to advanced nasopharyngeal carcinoma and is the constellation of:
unilateral conductive hearing loss due to middle ear effusion
trigeminal neuralgia due to perineural spread
soft palate immobility
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
Turner syndrome
Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females.
Epidemiology
The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of affected fet...
Article
Eosinophilic endocarditis
Eosinophilic endocarditis, also known as Löffler (Loeffler) endocarditis, is one of the cardiac manifestations of idiopathic hypereosinophilic syndrome. It is also considered a form of cardiomyopathy.
Epidemiology
There is limited information on the incidence of eosinophilic endocarditis. The ...
Article
Dialysis access-associated steal syndrome
Dialysis access-associated steal syndrome or haemodialysis access-related hand ischemia arises as a complication of arteriovenous (AV) access.
Epidemiology
Symptomatic dialysis access-associated steal syndrome has been reported in up to 6% of AV access patients ref. Prevalence is higher in bra...
Article
VEXAS syndrome
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe, treatment-refractory, monogenic, multiorgan, autoinflammatory condition with vasculitic and hematological complications.
Epidemiology
VEXAS syndrome is likely to be rare, but also likely to be underdiagnosed...
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
Encapsulating peritoneal sclerosis
Encapsulating peritoneal sclerosis is a rare benign cause of acute or subacute small bowel obstruction. It is characterized by total or partial encasement of the small bowel within a thick fibrocollagenous membrane.
Terminology
The condition was originally termed abdominal cocoon. The conditio...
Article
Rothmund-Thomson syndrome
Rothmund-Thomson syndrome (RTS) is an extremely rare autosomal recessive disorder with heterogeneous clinical features.
Clinical presentation
It is characterized by many features which include:
poikiloderma: characteristic rash, typically develops in infancy
sparse hair, eyelashes, and/or ey...
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
Carpal tunnel syndrome
Carpal tunnel syndrome results from compression of the median nerve (tunnel syndrome) within the carpal tunnel. It is a cause of significant disability and is one of three common median nerve entrapment syndromes, the other two being anterior interosseous nerve syndrome and pronator teres syndro...
Article
Bing-Neel syndrome
Bing-Neel syndrome is an extremely rare neurological complication of Waldenström macroglobulinemia where there is malignant lymphocyte infiltration into the central nervous system (CNS).
Epidemiology
The exact incidence is unknown, however, in one study of patients with Waldenström macroglobul...
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