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.
237 results found
Article
Zimmerman-Laband syndrome
Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.
Pathology
The molecular basis of the syndrome is unknown. An autosomal dominant mutation with a high mutation rate and rare instances of germinal mosaicism seem...
Article
Lateral pontine syndrome
Lateral pontine syndrome, also known as Marie-Foix syndrome or Marie-Foix-Alajouanine syndrome, refers to one of the brainstem stroke syndromes of the lateral aspect of the pons.
Clinical presentation
There is a characteristic clinical presentation 1,2,4:
ipsilateral
limb ataxia: cerebellar ...
Article
Dandy-Walker malformation
Dandy-Walker malformation (DWM) is the most common posterior fossa malformation, characterized by the triad of:
hypoplasia of the vermis and cephalad rotation of the vermian remnant
cystic dilatation of the fourth ventricle extending posteriorly
enlarged posterior fossa with torcular-lambdoi...
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
Lacunar stroke syndrome
Lacunar stroke syndrome is a description of the clinical syndrome that results from a lacunar infarct.
Each of the five classical lacunar syndromes has a relatively distinct symptom complex. Symptoms may occur suddenly, progressively, or in a fluctuating manner (e.g. the capsular warning syndr...
Article
Ataxia-telangiectasia
Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a rare multisystem autosomal recessive disorder, sometimes classified as a phakomatosis. It is characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections, and immunodeficiency.
On brain imaging, it usually demo...
Article
Shy-Drager syndrome
The Shy-Drager syndrome is a neurodegenerative disease, and one of the manifestations of multiple systemic atrophy (MSA).
Terminology
The prevailing thought is that that olivopontocerebellar degeneration, Shy-Drager syndrome and striatonigral degeneration are different manifestations of the sa...
Article
Duane syndrome
Duane syndrome, also known as Duane retraction syndrome, is a rare congenital disease characterized by non-progressive strabismus. It is caused by a variable degree of abnormal development of one or both of the abducens nerves (CN VI).
Epidemiology
It presents during childhood and it accounts ...
Article
Wildervanck syndrome
Wildervanck syndrome, also known as cervico-ocular-acoustic dysplasia, consists of the triad of:
Klippel-Feil syndrome
congenital ossicular anomalies: usually diffuse ossicular ankylosis and sensorineural deafness
Duane syndrome: ocular motility disturbance and horizontal strabismus, secondar...
Article
Neurofibromatosis type 1
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem neurocutaneous disorder, the most common phakomatosis, and a RASopathy. Additionally, it is also one of the most common inherited CNS disorders, autosomal dominant disorders, and inherited tumor syndromes....
Article
1p36 deletion syndrome
1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterized most commonly by a deletion in the distal segment of the short arm of chromosome one 1.
Epidemiology
The 1p36 deletion syndrome is present in approximately 1 in 5,000 live births. It is the most common termina...
Article
Nijmegen breakage syndrome
Nijmegen breakage syndrome, also known as Seemanova syndrome or Berlin breakage syndrome, is a rare autosomal recessive syndrome of chromosomal instability.
Clinical presentation
microcephaly present at birth and
progressive with age
dysmorphic facial features
mild growth restriction/delay...
Article
Lowe syndrome
Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe, is a multisystem disorder characterized by anomalies primarily affecting the eyes, nervous system, and kidneys.
Epidemiology
It is an extremely rare, pan-ethnic disease, with an estimated prevalence in the general population ...
Article
Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome, also known as pituitary stalk transection syndrome, is a syndrome characterized by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location.
Epidemiology
Pituitary stalk interruption syndrome...
Article
Cauda equina syndrome
Cauda equina syndrome is considered an incomplete cord syndrome, even though it occurs below the conus. Cauda equina syndrome refers to a collection of symptoms and signs that result from severe compression of the descending lumbar and sacral nerve roots. It is most commonly caused by an acutely...
Article
Sanjad-Sakati syndrome
Sanjad-Sakati syndrome, also known as hypoparathyroidism-intellectual disability-dysmorphism syndrome, is a rare autosomal recessive disorder.
Epidemiology
The syndrome is almost exclusively found in people of Arab origin. There is an equal distribution in both sexes.
Clinical presentation
h...
Article
Cerebral hyperperfusion syndrome
Cerebral hyperperfusion syndrome is a rare complication seen after treatment of long-standing severe carotid stenosis by carotid endarterectomy or carotid artery stenting. It is believed to be the result of failure of normal cerebral blood flow autoregulation.
Terminology
Cerebral hyperperfus...
Article
Guillain-Barré syndrome
Guillain-Barré syndrome (GBS) is a heterogeneous group of autoimmune polyradiculopathies, involving sensory, motor, and autonomic nerves. It is the most common cause of rapidly progressive flaccid paralysis. It is believed to be one of a number of related conditions, sharing a similar underlying...
Article
Anti-GQ1b antibody syndrome
Anti-GQ1b antibody syndrome refers to a spectrum of neurological conditions which share autoantibodies to the ganglioside complex GQ1b, and have overlapping clinical presentations.
Clinical presentation
Typical anti-GQ1b antibody syndromes with ophthalmoplegia include 1,3:
Miller Fisher syn...
Article
Waardenburg syndrome
Waardenburg syndrome is a rare neurocristopathy, with congenital pigmentary disorder secondary to an abnormal distribution of neural crest-derived melanocytes during embryogenesis resulting in patchy areas of depigmentation. It is considered in the investigation of congenital sensorineural deafn...
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