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
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
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
Carcinoid syndrome
Carcinoid syndrome refers to a spectrum of symptoms that result from excessive hormone (mainly serotonin) secretion.
Epidemiology
Occurs equally between the sexes, most commonly in the 40-70 year age group 3.
Clinical presentation
Diarrhea is the most common and earliest symptom but others ...
Article
Subacute encephalopathy with seizures in alcoholics (SESA syndrome)
Subacute encephalopathy with seizures in alcoholics (SESA syndrome) is a rare complication of chronic alcohol use that can present with seizures and a variety of neurological deficits.
Epidemiology
SESA syndrome is rare 1-3.
Clinical presentation
The typical clinical presentation is of con...
Article
Cerebellar mutism syndrome
Cerebellar mutism syndrome, also known as post-operative pediatric cerebellar mutism syndrome (pCMS), usually develops after resection of midline cerebellar or intraventricular tumors in the posterior cranial fossa. Typical features of this condition are transient mutism, ataxia, hypotonia and i...
Article
Werner syndrome
Werner syndrome is a progeroid rare autosomal recessive condition attributed to chromosome 8. It should not to be confused with similarly sounding Wermer syndrome.
Pathology
Werner syndrome is characterized by
premature senescence
cataracts
short stature
scleroderma-like skin changes such ...
Article
Wolff-Parkinson-White syndrome
The Wolff-Parkinson-White syndrome describes paroxysmal tachydysrhythmias in the presence of a specific accessory pathway which allows direct electrical connection between the atria and ventricles, which usually exclusively occurs via the atrioventricular (AV) node. The accessory pathway is usua...
Article
Chronic hereditary lymphedema
Chronic hereditary lymphedema (also known as Milroy disease) is a condition characterized by lower limb lymphedema. Patients typically present with pedal edema at or before birth or soon after. Occasionally, it develops later in life.
Clinical presentation
The commonest presentation is bilater...
Article
McCune-Albright syndrome
McCune-Albright syndrome (MAS) (also known as McCune-Albright-Sternberg syndrome) is a genetic disorder characterized by the triad:
endocrinopathy: precocious puberty
polyostotic fibrous dysplasia: more severe than in sporadic cases
cutaneous pigmentation: coast of Maine 'café au lait' spots
...
Article
Sakati-Nyhan syndrome
The Sakati-Nyhan syndrome, also known as Sakati-Nyhan-Tisdale syndrome or acrocephalosyndactly type III, is an extremely rare type of acrocephalopolysyndactyly.
Its main features include:
craniofacial defects
congenital limb abnormalities
congenital heart defects
History and etymology
It w...
Article
Distal intersection syndrome
The distal intersection syndrome relates to tenosynovitis of the extensor pollicis longus (EPL) tendon (3rd extensor compartment), where it crosses the extensor carpi radialis longus (ECRL) and brevis (ECRB) tendons (2nd extensor compartment) 1. It is distinct from intersection syndrome which oc...
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
Occipital horn syndrome
Occipital horn syndrome, also known as X-linked cutis laxa or Ehlers Danlos type IX, is a rare X-linked disorder of copper metabolism resulting in connective tissue abnormalities. Menkes disease is the severe form of this disease, with patients rarely surviving past 3 years of age. Occipital hor...
Article
Jarcho-Levin syndrome
Jarcho-Levin syndrome, or spondylothoracic dysostosis, is a rare genetic disorder.
Terminology
Previously, spondylocostal dysostosis was considered part of the Jarcho-Levin syndrome spectrum.
Epidemiology
The exact prevalence of this disease is unknown.
Clinical presentation
It is primaril...
Article
Parinaud syndrome
Parinaud syndrome, also known as dorsal midbrain syndrome, is a supranuclear vertical gaze disturbance caused by pathology of the dorsal midbrain region, often, but not exclusively, via compression of the superior tectal plate.
Clinical presentation
Parinaud syndrome is characterized by a clas...
Article
Duplication of the pituitary gland - plus syndrome
Duplication of the pituitary gland (DPG) is a rare developmental anomaly that may occur in an isolated fashion or in combination with other congenital craniofacial anomalies, hence, the term DPG-plus syndrome.
Epidemiology
Duplication of the pituitary gland is a very rare disease with a small ...
Article
Roberts syndrome
Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.
Clinical presentation
general
intrauterine growth restriction
postnatal growth and developmental delay
failure to thrive
t...
Article
Sickle cell disease (acute chest syndrome)
Acute chest syndrome in sickle cell disease is a leading thoracic complication - as well as leading cause of mortality - in those affected by sickle cell disease. The diagnosis is made on the combination of new pulmonary opacities on chest radiograph with at least one new clinical symptom or sig...
Article
Marfan syndrome
Marfan syndrome is a multisystem connective tissue disease caused by a defect in the protein fibrillin 1, encoded by the FBN1 gene. Cardiovascular involvement with aortic root dilatation and dissection is the most feared complication of the disease.
Epidemiology
The estimated prevalence is aro...
Article
Klippel-Feil syndrome
Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis.
Epidemiology
There is a recognized female predilection 1. Klippel-Feil syndrome has an incidence of 1:40,000-42,...
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