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
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 nevus (capillary malformation) and pial angiomas.
It is part of a wide spectrum of possible phenotypes included in the cerebrofacial arteri...
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...
Article
Neurofibromatosis type 1 (mnemonic)
Clinical diagnosis requires the presence of at least two criteria to confirm the presence of neurofibromatosis type 1 (NF1) 1.
These diagnostic criteria can be remembered with the mnemonic:
CAFE SPOT
Mnemonic
C: café-au-lait spots (greater than six seen during one year)
A: axillary or ingui...
Article
Lutembacher syndrome
Lutembacher syndrome refers to the rare combination of congenital atrial septal defect with acquired mitral stenosis.
History and etymology
It is named after Rene Lutembacher 4.
Article
Grisel syndrome
Grisel syndrome is a rare cause of torticollis that involves subluxation of atlanto-axial joint from inflammatory ligamentous laxity following an infectious process in the head and neck, usually a retropharyngeal abscess.
Epidemiology
It usually occurs in infants or young children.
Clinical p...
Article
Babinski-Nageotte syndrome
Babinski-Nageotte syndrome is thought to be a brainstem stroke syndrome in between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome), but distinct to that of Cestan-Chenais syndrome 1,2.
Terminology
In many texts this eponymous syn...
Article
Cortical blindness syndrome
Cortical blindness is a condition resulting from lesions in the primary visual cortex (V1) characterized by visual impairment but with an intact anterior visual pathway (normal pupillary reflexes and fundal appearance).
Clinical presentation
The degree of visual impairment is related to the ex...
Article
Campomelic dwarfism
Campomelic dwarfism, also known as campomelic dysplasia, is a rare form of skeletal dysplasia.
Epidemiology
Campomelic dwarfism is rare with an estimated incidence of ~1:200,000 births.
Associations
genital malformations: may be present in ~66% of patients 6
Clinical presentation
Diagnos...
Article
Allgrove syndrome
Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings:
achalasia
alacrima
ACTH insensitivity
Article
Stiff person syndrome
Stiff person syndrome, previously known as stiff man syndrome, is a very rare neuromuscular disease.
Terminology
Use of "stiff man syndrome" is strongly discouraged given that not only does the condition also affect females, but it is actually more common among females 6.
Epidemiology
Onset ...
Unable to process the form. Check for errors and try again.