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
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 in one Norwegian study was 82.3 cases per 100,000 peo...
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
Bardet-Biedl syndrome
Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.
Clinical presentation
The clinical spectrum includes:
retinal anomalies: similar to that of retinitis pigmentosa
intellectual disability
rena...
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. It is the preferred term replacing central pontine myelinolysis, recognizing that extrapontine structures can also be affected, previously kno...
Article
Posterior choroidal artery stroke
Posterior choroidal artery occlusion uncommonly presents as an isolated stroke syndrome. It usually coexists with posterior cerebral artery and often superior cerebellar artery involvement.
When seen in isolation damage is characteristically limited to the:
lateral geniculate body
pulvinar
...
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
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
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
Megalencephaly-capillary malformation syndrome
Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterized by early brain overgrowth and body morphogenesis an...
Article
Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID)
Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) is a triad of congenital cerebral anomalies.
Radiographic features
markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morphology ultrasound.
inte...
Article
Pallister-Hall syndrome
Pallister-Hall syndrome displays a wide range of severity and is characterized by hypothalamic hamartomas seen as a mass at the floor of the third ventricle, posterior to the optic chiasm 3,4.
Epidemiology
Pallister-Hall syndrome is rare and the exact prevalence is unknown. Patients with posta...
Article
Hypomelanosis of Ito
Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is the third most frequent phakomatosis, involving a wide spectrum of defects in multiple organ systems.
Epidemiology
The prevalence is unknown, being reported as between 1 per 8000 patients in a general pediatric hospital ...
Article
Trotter syndrome
Trotter syndrome relates to advanced nasopharyngeal carcinoma and is the constellation of:
unilateral conductive hearing loss due to middle ear effusion
trigeminal neuralgia due to perineural spread
soft palate immobility
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
Bing-Neel syndrome
Bing-Neel syndrome is an extremely rare neurological complication of Waldenström macroglobulinemia where there is malignant lymphocyte infiltration into the central nervous system (CNS).
Epidemiology
The exact incidence is unknown, however, in one study of patients with Waldenström macroglobul...
Article
Brown-Séquard syndrome
Brown-Séquard syndrome, also known as hemicord syndrome, is the result of damage to, or impairment of, the left or right side of the spinal cord. It is characterized by a characteristic pattern of motor and sensory deficits that are determined by the decussation pattern of various white matter t...
Article
Rosai-Dorfman disease
Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman-Destombes disease, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes.
Epidemiology
The disease predominantly occurs in young adults with a mean age at pre...
Article
Sotos syndrome
Sotos syndrome is an autosomal dominant syndrome considered as a form of cerebral gigantism, mainly characterized by prenatal and postnatal overgrowth.
Epidemiology
There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimated to...
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