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
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,...
Article
Cestan-Chenais syndrome
Cestan-Chenais syndrome is a rare brainstem stroke syndrome with features between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome), but distinct to that of Babinski-Nageotte syndrome 1,2.
Clinical presentation
Cestan-Chenais syndr...
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...
Article
Septic-embolic encephalitis
Septic-embolic encephalitis, also known as septic-embolic brain abscess, refers to a focal or diffuse brain infection, ischemic and hemorrhagic damages following infective thromboembolism from any part of the body. It is usually caused by bacterial infections from endocarditis.
Terminology
Se...
Article
Bálint syndrome
Bálint syndrome is characterized by:
simultanagnosia (inability to perceive more than one object at a time)
optic ataxia (poor visual-motor coordination)
oculomotor apraxia (loss of voluntary but not reflex eye movements)
Pathology
It typically results from damage to the parieto-occipital r...
Article
Slipping rib syndrome
Slipping rib syndrome, also known as Cyriax syndrome, occurs when hypermobility of the rib cartilage of the lower ribs slips and moves, leading to pain in the lower chest or upper abdomen 1.
Epidemiology
This condition may occur at any age, but is reportedly more common in middle-aged adults, ...
Article
Fowler syndrome
Fowler syndrome, also known as proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), is a rare inherited condition.
Terminology
Not to be confused with Fowler syndrome of urinary retention, a condition caused by primary failure of urethral sphincter relaxation resulting ...
Article
Drash syndrome
Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumor gene) and consists of:
Wilms tumor
male pseudohermaphroditism
progressive glomerulonephritis
Article
Sturge-Weber syndrome
Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis or encephalofacial angiomatosis, is a phakomatosis characterized by facial port-wine birthmark (capillary malformation) and pial angiomas.
It is part of a wide spectrum of possible phenotypes included in the cerebrofacial ar...
Article
Menkes disease
Menkes disease, also known as trichopoliodystrophy or kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper-dependent mitochondrial enzymes.
Epidemiology
Menk...
Article
Alport syndrome
Alport syndrome is a hereditary disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
Clinical presentation
hematuria
sensorineural hearing loss: typically high frequency 2
ocular abnormalities
anterior lenticonus which may result in c...
Article
Fat embolism syndrome
Fat embolism syndrome (FES) is an uncommon clinical manifestation of a minority of individuals who have fat emboli. It is the result of innumerable small fat emboli leading to a multisystem dysfunction, classically characterized by the triad of:
respiratory distress
cerebral abnormalities
pet...
Article
Multisystemic smooth muscle dysfunction syndrome
Multisystemic smooth muscle dysfunction syndrome is a rare genetic disorder caused by mutations in the ACTA2 gene, resulting in intracranial steno-occlusive disease and aortic dissection or aneurysm, among other complications.
Epidemiology
Most cases are diagnosed in childhood 1.
Clinical pre...
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