Articles
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More than 200 results
Article
VACTERL association
VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly.
Epidemiology
The estimated incidence is 1 in 10,000-40,000 births 3.
Associations
Several conditions have features in common with...
Article
Smith-Magenis syndrome
Smith-Magenis Syndrome (SMS) is a rare genetic syndrome which results from an interstitial deletion in chromosome 17p11.2.
Terminology
The condition is known by several other names which are all similar variants related to its underlying karyotype: 17p deletion syndrome, 17p11.2 monosomy, chro...
Article
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy (HMSN), refers to a heterogeneous group of inherited peripheral neuropathies rather than a single clinical entity 9.
Epidemiology
The prevalence of CMT has been reported at ~45 cases (range 10-82) per 100,...
Article
Fitz-Hugh-Curtis syndrome
Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is the inflammation of the liver capsule and overlying peritoneum associated with adhesion formation, without the involvement of the hepatic parenchyma. It is a chronic complication of pelvic inflammatory disease (PID).
Epidemiology
The preva...
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
Osmotic demyelination syndrome
Osmotic demyelination syndrome refers to acute demyelination seen in the setting of osmotic changes, typically with the rapid correction of hyponatremia.
Terminology
Osmotic demyelination syndrome is the preferred term, replacing central pontine myelinolysis, recognizing that extrapontine stru...
Article
Acute aortic syndrome
Acute aortic syndrome describes the presentation of patients with one of a number of life-threatening aortic pathologies that give rise to similar clinical presentations.
Exactly which entities are included under the umbrella term acute aortic syndrome varies somewhat from publication to public...
Article
Bone marrow edema syndrome
Bone marrow edema syndrome refers to a group of transient, self-limiting clinical entities of unknown cause, which are associated with the presence of bone marrow edema pattern.
These conditions include:
transient osteoporosis of the hip
bone marrow edema syndrome of the foot and ankle
regio...
Article
Doege-Potter syndrome
Doege-Potter syndrome is a paraneoplastic non-islet cell tumor hypoglycemia, secondary to a solitary fibrous tumor, most commonly pulmonary, secreting insulin-like growth factor-2 (IGF-2).
It is rare and more often found with higher grade solitary fibrous tumors 1-4.
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 is estimated at ~1:40,000.
Clinical presentation
Many cases present at ~2 years of age and have normal intelligence....
Article
Superior vena cava obstruction
Superior vena cava obstruction (SVCO) can occur from extrinsic compression, intrinsic stenosis, or thrombosis of the superior vena cava. Malignancies are the main cause and are considered an oncologic emergency. Superior vena cava syndrome (SVCS) refers to the clinical syndrome with symptoms tha...
Article
Thoracic outlet syndrome
Thoracic outlet syndrome refers to a group of clinical syndromes caused by congenital or acquired compression of the brachial plexus or subclavian vessels as they pass through the superior thoracic aperture 11.
Clinical presentation
Clinical presentation will depend on the structure compresse...
Article
Muscle-eye-brain disease
Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities.
Clinical presentation
There is severe intellectual di...
Article
Post-thrombotic syndrome
Post-thrombotic syndrome (PTS) is a syndrome of chronic venous insufficiency following deep vein thrombosis (DVT) due to valvular incompetence, which results in chronic reflux and chronic venous hypertension.
Epidemiology
PTS is a common complication following extensive DVT of the limbs. Up to...
Article
Galloway-Mowat syndrome
Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly.
Epidemiology
Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide...
Article
X-linked Opitz G/BBB syndrome
X-linked Opitz G/BBB syndrome (XLOS) is an x-linked disorder with a spectrum of congenital anomalies. Anomalies that may be seen are:
facial anomalies
ocular hypertelorism
prominent forehead
widow's peak
broad nasal bridge
anteverted nares
cleft lip and/or palate
laryngotracheoesophage...
Article
Wernicke aphasia
Wernicke aphasia, also known as receptive aphasia or sensory aphasia, is a type of fluent aphasia usually caused by injury (e.g. stroke) to the dominant posterior temporal lobe (Wernicke's area) 1,2.
Clinical presentation
Wernicke aphasia has classic effects on speech 1,2:
fluency: fluent spe...
Article
Proteus syndrome
Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer.
Clinical presentation
Affected patients usually appear nor...
Article
Alexia
Alexia (or acquired dyslexia) is a neurological term refers to an acquired impairment of reading resulting from damage of critical brain areas.
Clinical presentation
Alexia can manifest itself as an impairment of oral reading and reading comprehension alike and can occur in combination with va...
Article
Heterotaxy syndrome
Heterotaxy syndromes refer to abnormal left/right distribution of thoracic and abdominal organs that is neither situs solitus nor situs inversus. They are frequently associated with congenital heart disease and other visceral abnormalities.
Terminology
Isomerism implies mirrored organs, and ca...