Articles
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93 results found
Article
Eosinophilic granulomatosis with polyangiitis
Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome is characterized by asthma, eosinophilia and small vessel necrotizing vasculitis and involves the lungs and other organs.
Epidemiology
The incidence typically peaks in middle age, 30-50 years of ag...
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
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
Neck-tongue syndrome
Neck-tongue syndrome is a rare syndrome characterized by altered sensation in one side of the tongue with ipsilateral neck pain triggered or aggravated by rotatory neck movement.
Epidemiology
Neck tongue syndrome is seen in a wide range of ages but is most commonly reported in older children,...
Article
Kartagener syndrome
Kartagener syndrome (also known as Kartagener-Afzelius syndrome) is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure or function, leading to impaired mucociliary clearance.
Epidemiology
The prevalence of primary ciliary dyski...
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...
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
Carotidynia
Carotidynia, also known as Fay syndrome, is a rare syndrome characterized by neck pain in the region of the carotid bifurcation.
It was classified by the International Headache Society (IHS) in 1988 as an idiopathic neck pain syndrome associated with tenderness over the carotid bifurcation with...
Article
Eagle syndrome
Eagle syndrome refers to symptomatic elongation of the styloid process or calcified stylohyoid ligament 1,2. It is often bilateral. In most cases, the cause is unknown; however, the condition is sometimes associated with disorders causing heterotopic calcification such as abnormal calcium/phosph...
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
Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome is a rare spectrum of disorders with an autosomal dominant pattern of inheritance 6. The syndrome incorporates all of 5:
Axenfeld anomaly: posterior embryotoxon and peripheral irido-corneal adhesions
Rieger anomaly: findings of Axenfeld anomaly along with corectopia (m...
Article
Von Hippel-Lindau disease
Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3.
Epidemiology
The disease is rare with an estimated prevalence of 1:35,000-50,...
Article
Terson syndrome
Terson syndrome refers to intraocular hemorrhage in patients with intracranial hemorrhage.
Terminology
The traditional definition of Terson syndrome was vitreous hemorrhage associated with subarachnoid hemorrhage. However, there is also a broader definition which captures intraocular hemorrhag...
Article
Collet-Sicard syndrome
Collet-Sicard syndrome, also known as condylar jugular syndrome, is a constellation of cranial nerve palsies due to neoplastic or non-neoplastic lesions at the jugular foramen 1,2.
Clinical presentation
Vernet syndrome, consisting of motor paralysis of
glossopharyngeal nerve (CN IX)
vagus ne...
Article
Horner syndrome
Horner syndrome classically presents as an ipsilateral enophthalmos, blepharoptosis, pupillary miosis and facial anhidrosis due to disruption at some point of the oculosympathetic pathway.
Ptosis is due to interruption of the sympathetic motor innervation of the superior tarsal muscle which is ...
Article
Acrocephalosyndactyly
Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized by:
calvarial anomalies, e.g. craniosynostoses
digital anomalies, e.g. syndactyly
Pathology
While there can be some overlap in features, they can be primarily classified into the following major su...
Article
Gardner-Silengo-Wachtel syndrome
Gardner-Silengo-Wachtel syndrome, also known as genito-palato-cardiac syndrome, is a rare male (46XY) gonadal dysgenesis condition that is assumed to be either an X-linked recessive or an autosomal recessive disorder 1.
Epidemiology
The estimated incidence is at <1 in 1,000,000 live births.
P...
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
Benign paroxysmal positional vertigo
Benign paroxysmal positional vertigo (BPPV) is one of the most common causes of vertigo. It occurs secondary to change in posture and typically is associated with nystagmus. The etiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posterio...
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