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
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...
Article
Brown-Séquard syndrome
Brown-Séquard syndrome, also known as hemicord syndrome, is the result of damage to, or impairment of, the left or right side of the spinal cord. It is characterized by a characteristic pattern of motor and sensory deficits that are determined by the decussation pattern of various white matter t...
Article
Crouzon syndrome
Crouzon syndrome, also known as craniofacial dysotosis, is rare disorder characterized by premature craniosynostoses.
Pathology
Features include:
abnormal calvarial shape: in severe case can give a "cloverleaf skull"
shallow orbits with exophthalmos
mid facial hypoplasia
bifid uvula
Gen...
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
Shy-Drager syndrome
The Shy-Drager syndrome is a neurodegenerative disease, and one of the manifestations of multiple systemic atrophy (MSA).
Terminology
It is important to note that the current belief that olivopontocerebellar degeneration, Shy-Drager syndrome and striatonigral degeneration are different manifes...
Article
Acute coronary syndrome
Acute coronary syndrome (ACS) is a group of cardiac diagnoses along a spectrum of severity due to the interruption of coronary blood flow to the myocardium, which in decreasing severity are:
ST elevation myocardial infarction (STEMI)
non-ST elevation myocardial infarction (NSTEMI)
unstable an...
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
Turcot syndrome
Turcot syndrome is a polyposis syndrome. It is characterized by multiple colonic polyps and an increased risk of colon cancer and primary brain cancers.
Epidemiology
Turcot syndrome is a rare disease. Patients typically present in the second decade 3.
Pathology
Turcot syndrome is characteriz...
Article
McKusick Kaufman syndrome
McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterized by
hydrometrocolpos - vaginal atresia
post-axial polydactyly
congenital heart disease
Article
COACH syndrome
The acronym COACH describes a syndrome associated with:
C: cerebellar vermis defect (Joubert syndrome)
O: oligophrenia
A: ataxia
C: coloboma
H: hepatic fibrosis
Epidemiology
COACH syndrome is considered extremely rare.
Associations
The association with infantile polycystic kidney diseas...
Article
Cockayne syndrome
Cockayne syndrome is a rare autosomal recessive dysmyelinating disease. Cockayne syndrome is classified among the childhood leukodystrophies, and brain imaging findings are cardinal features suggesting the diagnosis of Cockayne syndrome. Previously published Cockayne syndrome imaging studies hav...
Article
Bouveret syndrome
Bouveret syndrome refers to a gastric outlet obstruction secondary to impaction of a gallstone in the pylorus or proximal duodenum. Thus, it can be considered a very proximal form of gallstone ileus.
Clinical presentation
Bouveret syndrome occurs most commonly in elderly women. The presenting...
Article
Morgagni-Stewart-Morel syndrome
Morgagni-Stewart-Morel syndrome consists of the triad of:
hyperostosis frontalis interna
obesity
excessive hair growth (virilism/hirsutism)
and is also associated with neuropsychiatric conditions. The cause is unclear.
History and etymology
It was first described in 1765 by the Italian ...
Article
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses.
Clinical presentation
short neck
short trunk with protruding abdomen
normal IQ
spine
atlantoaxial instability
craniovertebral junction stenosis
platyspondyly
scoliosis
exag...
Article
Excessive lateral pressure syndrome
Excessive lateral pressure syndrome or lateral patellar compression syndrome is the abnormal lateral tilt of the patella without lateral translation 1 and is considered one of the relatively common causes of anterior knee pain.
Epidemiology
Excessive lateral pressure syndrome can affect both a...
Article
Ulnar styloid impaction syndrome
Ulnar styloid impaction syndrome refers to wrist pain due to a long ulnar styloid process impacting upon the triquetral bone.
Pathology
An ulnar styloid >6 mm in length is commonly regarded as being long. Impaction results in chondromalacia of the opposing articular surfaces, i.e. the proximal...
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...
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