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
Osteopathia striata with cranial sclerosis
Osteopathia striata with cranial sclerosis (OS-CS) is a clinically separate entity from osteopathia striata (Voorhoeve disease). Bony changes on their own are typically incidental and autosomal dominant, whereas OS-CS is a multisystem, X-linked dominant disorder.
Epidemiology
OS-CS is extremel...
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
Ophelia syndrome
Ophelia syndrome is the association of Hodgkin lymphoma with an autoimmune limbic encephalitis, as a result of anti-metabotropic glutamate receptor 5 antibodies (mGluR5) 1. In addition to anti-mGluR5, many other antibodies are associated with or implicated in autoimmune encephalitis in the setti...
Article
Leigh syndrome
Leigh syndrome, also known as subacute necrotizing encephalomyelopathy (SNEM), is a mitochondrial disorder characterized by progressive neurodegeneration, mitochondrial dysfunction, and bilateral central nervous system lesions, that invariably leads to death, usually in childhood.
Epidemiology
...
Article
Mirizzi syndrome
Mirizzi syndrome refers to an uncommon phenomenon that results in extrinsic compression of an extrahepatic biliary duct from one or more calculi within the cystic duct or gallbladder. It is a functional hepatic syndrome but can often present with biliary duct dilatation and can mimic other hepat...
Article
Hereditary breast and ovarian cancer syndrome
Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast ca...
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
Moyamoya syndrome
Moyamoya syndrome, also termed the moyamoya pattern or phenomenon, is due to numerous conditions that can cause arterial occlusion of the circle of Willis, with resultant collaterals, and appearances reminiscent of moyamoya disease.
These conditions include 1-4 :
vessel wall abnormalities
int...
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
Carney complex
Carney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome characterized by 1-4:
cardiac myxoma
often multiple
seen in two-thirds of patients with Carney complex
skin pigmentation (blue nevi): especially of the face, trunk, lips, and sclera
M...
Article
Zinner syndrome
Zinner syndrome is a triad of mesonephric (Wolffian) duct anomalies comprising unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1.
Epidemiology
The condition is rare, with ~200 reported cases (c. 2009) 9.
Clinical presentation
Patients are typical...
Article
Wunderlich syndrome
Wunderlich syndrome is a rare condition in which spontaneous non-traumatic renal hemorrhage occurs into the subcapsular and perirenal spaces.
Clinical presentation
Wunderlich syndrome is clinically characterized by Lenk's triad:
acute flank pain
flank mass
hypovolemic shock
Mnemonic
F: f...
Article
POEMS syndrome
POEMS syndrome is the acronymic name for a rare multisystem paraneoplastic disorder including the following features:
P: polyneuropathy
O: organomegaly
E: endocrinopathy
M: monoclonal gammopathy
S: skin changes
Clinical presentation
The diagnostic criteria differ from the acronym. Accordi...
Article
Lady Windermere syndrome
Lady Windermere syndrome refers to a pattern of pulmonary Mycobacterium avium complex (MAC) infection seen typically in elderly white women who chronically suppress the normal cough reflex. A fastidious nature and a reticence to expectorate are believed to predispose such persons to infections w...
Article
Nephrotic syndrome
Nephrotic syndrome results from loss of plasma proteins in the urine and characterized by hypoalbuminemia, hyperalbuminuria, hyperlipidemia, and edema. It may be caused by primary (idiopathic) renal disease or by a variety of secondary causes.
Clinical presentation
Patients present with marked...
Article
Familial multiple cavernous malformation syndrome
The familial multiple cavernous malformation syndrome, or familial cerebral cavernous malformation syndrome, is uncommon, accounting for only a minority of cavernous malformations.
Epidemiology
It has been more frequently reported in patients of Hispanic descent 1.
Diagnosis
The definition o...
Article
Foster Kennedy syndrome
Foster Kennedy syndrome describes the clinical syndrome of unilateral optic atrophy with contralateral papilledema caused by an ipsilateral compressive mass lesion.
Clinical presentation
The syndrome consists of two cardinal features, in relation to a mass lesion 1,2:
ipsilateral optic nerve ...
Article
Buried bumper syndrome
Buried bumper syndrome is a rare but important complication in patients with a percutaneous gastrostomy (PEG) tube, occurring by migration of the internal bumper along its track. The tube may get lodged anywhere between the gastric wall and the skin and lead to life-threatening complications tha...
Article
Plantaris friction syndrome
Plantaris friction syndrome is a rare cause of Achilles tendinopathy.
Pathology
While its pathogenesis is incompletely understood, some authors suggest that it may relate to the presence of a compressive tendinopathy between the Achilles tendon and plantaris tendon with resultant inflammation ...
Article
Levator ani syndrome
Levator ani syndrome (LAS) is a musculoskeletal pain syndrome involving the pelvic floor, thought to be caused by spasm or scarring of the levator ani muscles.
Clinical presentation
Levator ani syndrome is characterized by recurrent pain, pressure or discomfort in the region of the rectum, sac...
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