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 edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

1,793 results found
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Chemotherapy induced cholangitis

Chemotherapy induced cholangitis is caused when intra-arterial chemotherapy is introduced to treat liver metastases. This causes strictures of the common hepatic duct and main ducts, but spares distal and proximal (i.e. common bile duct and intrahepatic ducts).  Radiographic features similar t...
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Cherubism

Cherubism has historically been considered a variant of fibrous dysplasia, but in reality is likely a distinct entity.  Epidemiology Cherubism is a rare disorder and the precise incidence is unknown. It is inherited in an autosomal dominant pattern 2 and has variable penetrance, with onset in ...
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Chiari 1.5 malformation

Chiari 1.5 malformation, or bulbar variant of Chiari I malformation, is a term used in the literature to describe the combination of cerebellar tonsillar herniation (as seen in Chiari I malformation) along with caudal herniation of some portion of the brainstem (often obex of the medulla oblonga...
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Chiari III malformation

Chiari III malformation is an extremely rare anomaly characterized by a low occipital and high cervical encephalocele with herniation of posterior fossa contents, that is, the cerebellum and/or the brainstem, occipital lobe, and fourth ventricle.  Pathology Associations agenesis of the corpus...
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Choanal atresia

Choanal atresia refers to a lack of formation of the choanal openings. It can be unilateral or bilateral. Epidemiology It frequently presents in neonates where it is one of the commonest causes of nasal obstruction in this age group. There is a recognised female predilection. The incidence is ...
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Cholangiocarcinoma

Cholangiocarcinoma is a malignant tumour arising from cholangiocytes in the biliary tree. It tends to have a poor prognosis and high morbidity. It is the second most common primary hepatic tumour, with intrahepatic cholangiocarcinomas (ICCs) accounting for 10-20% of primary liver tumours. Epide...
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Cholecystoduodenal fistula

Cholecystoduodenal fistula refers to a fistulous connection between the gallbladder and the duodenum. It is considered the most common type of enterobiliary fistulation. Clinical presentation Can vary but some can present with Bouveret syndrome 3 or a gallstone ileus. Radiographic features C...
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Choledocholithiasis

Choledocholithiasis denotes the presence of gallstones within the bile ducts (common hepatic duct / common bile duct). Epidemiology Choledocholithiasis is relatively common, seen in in 6-12% of patients who undergo cholecystectomy 2. Clinical presentation Stones within the bile duct are ofte...
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Cholesteatoma

Cholesteatoma is histologically equivalent to an epidermoid cyst and is composed of desquamated keratinizing stratified squamous epithelium forming a mass. They usually present with conductive hearing loss. Pathology The mass is lined by epithelium (facing inwards) which continues to grow, the...
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Chondroblastoma

Chondroblastomas, also referred as Codman tumours, are rare benign cartilaginous neoplasms that characteristically arise in the epiphysis or apophysis of a long bone in young patients. Despite being rare, they are one of the most frequently encountered benign epiphyseal neoplasms in skeletally i...
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Chondrodysplasia punctata

Chondrodysplasia punctata (CDP) is a collective name for a heterogenous group of skeletal dysplasias. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature. Pathology Subtypes It can be broadly divided into rhizomelic and non-rhizomelic forms: rhizomelic c...
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Chondroid lipoma

Chondroid lipomas are rare benign soft tissue tumours that, as you might guess, contain a varied ratio of both fat and cartilage. These lesions can be diagnostically confusing as they may mimic or be confused with other fat containing neoplasms, most importantly those of much greater clinical si...
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Chondrolysis

Chondrolysis, also known as acute cartilage necrosis, is an acute cartilage destruction of the femoral head. It is one of the complications that are specifically associated with slipped capital femoral epiphysis (SCFE). It is a poorly understood phenomenon. Epidemiology The quoted incidence is...
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Chondromalacia patellae

Chondromalacia patellae refers to softening and degeneration of the articular hyaline cartilage of the patella and is a frequent cause of anterior knee pain. Epidemiology Tends to occur in young adults. There is a recognised female predilection. Clinical presentation Patients with chondromal...
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Chondromyxoid fibroma

Chondromyxoid fibromas (CMFs) are extremely rare, benign cartilaginous neoplasms that account for <1% of all bone tumours. Epidemiology  The majority of cases occur in the second and third decades, with ~75% of cases occurring before the age of 30 years 1,12-15.  There is no recognised gender ...
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Chordoid glioma of the third ventricle

Chordoid gliomas of the third ventricle are rare slow growing well-circumscribed low-grade tumours lesions that arise from the anterior wall or roof of the third ventricle.  Epidemiology Epidemiological data is limited due to the rare nature of this finding and less than 100 cases have been pu...
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Chordoid meningioma

Chordoid meningiomas are uncommon histological variants of meningiomas, and due to their predilection for rapid growth and local recurrence are designated as grade 2 tumours under the current WHO classification of CNS tumours.  Chordoid tumours are encountered in a very wide age range (possibly...
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Chorea

Chorea is a type of dyskinesia characterised by sudden, rapid, involuntary, and purposeless movements that happen during a person’s normal voluntary movement. It is a clinical symptom related to different aetiologies, such as infectious, inflammatory, vascular, hereditary (e.g. Huntington's dise...
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Choriocarcinoma

Choriocarcinoma is an aggressive, highly vascular tumour. When it is associated with gestation, it is often considered part of the spectrum of gestational trophoblastic disease; it is then termed gestational choriocarcinoma. When it occurs in the absence of preceding gestation, it is termed non-...
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Chorioretinal lacunae

Chorioretinal lacunae refer to punched out lesions in pigmented layer of retina, usually around the optic disc. It is a considered a consistent feature of Aicardi syndrome.
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Choristoma

A choristoma is simply a collection of microscopically normal cells or tissues in an abnormal location. This is different to a hamartoma which is derived only from local tissues. Examples include: adrenal choristoma (myelolipoma) nasopharyngeal choristoma facial nerve choristoma optic nerve...
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Choroid plexitis

Choroid plexitis is a general term referring to an inflammatory process affecting the choroid plexus; it is usually due an infectious process. It is rarely seen as an isolated process and is commonly found in association with encephalitis, meningitis, or ventriculitis 1. The choroid plexus can a...
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Choroid plexus carcinoma

Choroid plexus carcinomas are malignant neoplasms arising from the choroid plexus. They are classified as a WHO grade III tumour and while there is considerable overlap in imaging characteristics it carries significantly poorer prognosis than both WHO grade II atypical choroid plexus papilloma, ...
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Choroid plexus cyst (antenatal)

Antenatal choroid plexus cysts are benign and are often transient typically resulting in utero from an infolding of the neuroepithelium.   They should not be confused with adult choroid plexus cysts (which are very commonly found at autopsy and likely degenerative), large intraventricular simpl...
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Choroid plexus hyperplasia

Choroid plexus hyperplasia (CPH), also known as villous hypertrophy of the choroid plexus, is a rare benign condition that is characterised by bilateral enlargement of the entire choroid plexus in lateral ventricles without any discrete masses. This can result in overproduction of CSF and commun...
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Choroid plexus metastases

Metastases to the choroid plexus from extracranial tumours are rare, but nonetheless should be included in the differential diagnosis of an intraventricular mass. They are most commonly found within the lateral ventricles, presumably because a large proportion of the choroid plexus is located th...
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Choroid plexus papilloma

Choroid plexus papillomas are an uncommon, benign (WHO grade I) neuroepithelial intraventricular tumour which can occur in both the paediatric (more common) and adult population.  On imaging, these tumours are usually identified in the fourth ventricle in adults and in the lateral ventricles in...
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Choroid plexus xanthogranuloma

Choroid plexus xanthogranulomas are common, incidental and almost invariably asymptomatic lesions. It is unclear in much of the literature whether they represent a distinct entity from adult choroid plexus cysts, but they share imaging characteristics and are only likely to be distinguishable on...
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Choroidal detachment

Choroidal detachment is a detachment of the choroid from the underlying sclera due to increased intraocular pressure (IOP), and occurs in some settings: transudative: trauma exudative: fluid accumulating in the suprachoroidal space secondary to many causes, most commonly inflammation (e.g. uve...
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Choroidal epithelial cells

Choroidal epithelial cells are one of the three types of ependymal cells, themselves a type of glial cell. They cover the surface of the choroid plexus 1. 
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Chromogranin A

Chromogranin A (CgA) is an acidic secretory glycoprotein found in the secretory granules of neuroendocrine cells and neurones, as is a member of the granin family of proteins. It can be used both for immunohistochemical stains and as a serum marker 4.  Immunohistochemistry Chromogranin A is us...
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Chronic bronchitis

Chronic bronchitis (CB) is often defined as the presence of productive cough for three months in two successive years in a patient in whom other causes of chronic cough, such as tuberculosis, lung cancer and heart failure, have been excluded. It can be an important pathological component of chro...
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Chronic cholecystitis

Chronic cholecystitis refers to prolonged inflammatory condition that affects the gallbladder. It is almost always seen in the setting of cholelithiasis (95%), caused by intermittent obstruction of the cystic duct or infundibulum or dysmotility. Clinical presentation Patients may have a histor...
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Chronic eosinophilic pneumonia

Chronic eosinophilic pneumonia (CEP) is a type of eosinophilic lung disease. It is an idiopathic condition and is characterised by chronic and progressive clinical features. Epidemiology Most patients are middle aged, and approximately 50% have background asthma. There is a greater female pred...
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Chronic hip subluxation

Chronic hip subluxation most common occurs in paediatric patients with neuromuscular disorders (e.g. cerebral palsy). It is considered a form of developmental hip dysplasia.  Epidemiology Chronic hip subluxation occurs in ~45% of cerebral palsy patients who are not walking by 5 years of age 3....
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Chronic inflammatory demyelinating polyneuropathy

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired demyelinating disease involving peripheral nerves, and is generally considered the chronic counterpart to Guillain-Barré syndrome (GBS).  Clinical presentation Patients typically present with a gradual and protracted (> 2 ...
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Chronic invasive fungal sinusitis

Chronic invasive fungal sinusitis (CIFS) is a form of invasive fungal sinusitis.  Clinical presentation The condition has a more prolonged course than acute invasive fungal sinusitis, usually more than 12 weeks 5. Patients are usually immunocompetent or have a milder level of immunocompromise....
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Chronic kidney disease

Chronic kidney disease (CKD), also known as chronic renal failure, is a progressive loss of glomerular function caused by a long-standing renal parenchymal disease. It is present when the glomerular filtration rate (GFR) is less than 60 ml/min/1.73 m2 for three consecutive months or greater than...
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Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS)

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an uncommon and only recently described disorder characterised by infiltration of the brain by inflammatory cells. It has a predilection for the pons, with fairly characteristic curvilinea...
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Chronic lymphocytic leukaemia

Chronic lymphocytic leukaemia (CLL) is a haematological malignancy.  Epidemiology CLL is considered the most common type of leukemia in the Western hemisphere; its prevalence in Europe and North America ranges from 29-38% of all leukaemias 1. It primarily affects adults ~65-70 years of age 3. ...
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Chronic mesenteric ischaemia

Chronic mesenteric ischaemia is an uncommon type of intestinal ischaemia usually affecting elderly patients as a result of significant stenosis of two or more mesenteric arteries. Epidemiology Normally seen in patients older than 60 years of age and is three times more common in women. Clinic...
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Chronic otomastoiditis with ossicular erosions

Chronic otomastoiditis with ossicular erosions (aka) non cholesteatomatous ossicular erosion or post inflammatory ossicular erosions is defined by the erosive changes involving the ossicles in the absence of cholesteatoma in patient with history of chronic otomastoiditis. Radiographic features ...
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Chronic otomastoiditis with tympanosclerosis

Chronic otomastoiditis with tympanosclerosis represents calcific or bony middle ear foci secondary to suppurative chronic otomastoiditis. Radiographic features Common locations of calcifications include: tympanic membrane ossicle surface stapes footplate muscle tendons ossicle ligaments ...
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Chronic pancreatitis

Chronic pancreatitis represents the end result of a continuous, prolonged, inflammatory and fibrosing process that affects the pancreas. This results in irreversible morphologic changes and permanent endocrine and exocrine pancreatic dysfunction. Epidemiology The most common cause of chronic p...
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Chronic periaortitis

Chronic periaortitis is an inflammatory condition which typically involves the infrarenal portion of the abdominal aorta. It is a rare disease usually occuring in middle-aged men. It has various clinical presentations: idiopathic retroperitoneal fibrosis (IRF) perianeurysmal retroperitoneal f...
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Chronic pulmonary embolism

Chronic pulmonary emboli are mainly a consequence of incomplete resolution of pulmonary thromboembolism. Radiographic features CTPA vascular CT signs include direct pulmonary artery signs complete obstruction partial obstruction eccentric thrombus calcified thrombus - calcific pulmonary ...
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Chronic pyelonephritis

Chronic pyelonephritis is form of pyelonephritis where there are longstanding sequelae of renal infection. At the time of writing there is still no definitive consensus at to whether the condition represents an active chronic infection, arises from multiple recurrent infections, or represents st...
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Chronic sinusitis

Chronic sinusitis refers to ongoing long term sinus infection-inflammation that often develops secondary to a prolonged/refractory acute sinus infection. Epidemiology It most commonly affects young to middle-aged adults but can uncommonly affect children. Pathology Aetiology deviated nasal ...
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Chronic traumatic encephalopathy

Chronic traumatic encephalopathy (CTE) is a neurodegenerative tauopathy that is thought to result from mild repetitive head trauma.  Epidemiology The exact incidence and prevalence is unknown. It is most commonly seen in amateur and professional sports players where head contact is common (e.g...
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Circumferential resection margin

The circumferential resection margin (CRM) is a term used in rectal carcinoma excision surgery (such as total mesorectal excision (TME). Pathologic evaluation of the resection margin on the excised rectum has been considered important for determining the risk of local recurrence. A margin of ≤1...
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Cirsoid aneurysm

Cirsoid aneurysms are rare arteriovenous malformations of the scalp and extremities.  Clinical presentation Patients often present with a slow-growing pulsatile mass and may also experience bleeding, tinnitus and/or a headache 3.  Pathology Cirsoid aneurysms develop due to an abnormal arteri...
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Clasp-knife deformity

Clasp-knife deformity is relatively common congenital anomaly found at the lumbosacral junction.   Clinical presentation Clasp-knife syndrome, is one of many causes of low back pain. It occurs when a clasp-knife deformity is accompanied by pain on extension secondary to protrusion of the enlar...
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Clear cell meningioma

Clear cell meningiomas are a histological variant of meningioma with poorer prognosis and a higher rate of recurrence. They are therefore considered WHO grade 2 tumours, regardless of mitotic index, cellular atypia/anaplasia, or presence of brain invasion.  Epidemiology Clear cell meningiomas ...
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Clear cell sarcoma of the kidney

Clear cell sarcomas (CCS) of the kidney are a rare mesenchymal renal tumour that accounts for ~5% of primary renal neoplasms in paediatric population 1.  Epidemiology CCS is the second most common primary malignant renal neoplasm after Wilms tumour, with an annual incidence of 20 cases in the ...
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Clear cell tumour of the lung

Clear cell tumour of the lung is a rare benign pulmonary neoplasm that contains an abundant amount of glycogen. It is often classified under the spectrum of perivascular epithelioid cell tumours (PEComas). Radiographic features Usually seen as a rounded, smooth-walled, and peripheral parenchym...
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Clinically unclassifiable parkinsonism

Clinically unclassifiable parkinsonism (CUP) is a term applied to patients who have some parkinsonism features, but who do not fulfil clinical criteria for a particular disorder such as:  Parkinson disease  progressive supranuclear palsy (PSP)  multiple system atrophy (MSA-P)   corticobasal ...
Article

Clonorchiasis

Clonorchiasis is a trematodiasis caused by chronic infestation by Clonorchis sinensis, and can lead to recurrent pyogenic cholangitis, biliary strictures and cholangiocarcinoma.  Epidemiology Infection with Clonorchis sinensis occurs in endemic areas, mainly east China. Over 85 million people ...
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Clostridium difficile colitis

Clostridium difficile colitis, also known as pseudomembranous colitis, is a common cause of antibiotic-associated diarrhoea, and increasingly encountered in sick hospitalised patients. If undiagnosed and untreated, it continues to have high mortality. It may be classified as a form of infectious...
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CNS capillary telangiectasia

CNS capillary telangiectasiae(s) are small, asymptomatic low flow vascular lesions of the brain.  Epidemiology As these lesions are asymptomatic, diagnosis usually matches the age of first imaging with MRI, and as such are most frequently found in middle-aged and elderly adults. Their incidenc...
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CNS cryptococcosis

CNS cryptococcosis results from infection of the central nervous system with the yeast-like fungus Cryptococcus neoformans. It is the most common fungal infection and second most common opportunistic infection of the central nervous system. For a general discussion of infection with this organi...
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CoA synthase protein associated neurodegeneration

CoA synthase protein associated neurodegeneration (CoPAN) is a type of neurodegeneration with brain iron accumulation (NBIA). Clinical presentation Patients typically present with a variety of symptoms including spastic-dystonic paraparesis, Parkinsonism, cognitive impairment, obsessive-compul...
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Coal workers' pneumoconiosis

Coal workers' pneumoconiosis (CWP) is an occupational disease (type of pneumoconiosis) caused by exposure to coal dust free of silica (washed coal). Histologically, CWP is classified according to disease severity into simple (presence of coal macules) and complicated (with progressive massive fi...
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Coccidioidomycosis

Coccidioidomycosis refers to an infection caused by the dimorphic fungus Coccidioides spp, usually localised to the lungs. This disease is not to be confused with the similarly named paracoccidioidomycosis. Epidemiology The most common forms of Coccidioides spp are Coccidioides immitis and Coc...
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Cochlear aplasia

Cochlear aplasia, or complete absence of the cochlea is a rare anomaly which accounts for only 3% of cochlear malformations.1 Radiographic features complete absence of the cochlea. Dense otic bone is seen at the anatomical site of the cochlea 2 cochlear nerve canal and cochlear nerve are abse...
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Cochlear hypoplasia

Cochlear hypoplasia is defined by small underdeveloped cochlea <2 turns. Radiographic features a small cochlear bud of variable length (usually 1–3 mm).  It has only one turn or a partial turn is seen cochlear nerve often hypoplastic or absent cochlear nerve canal: absent, narrow or normal ...
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Cochlear incomplete partition type I

Cochlear incomplete partition type I  (IP-I) is a type of cochlear anomaly associated with sensorineural hearing loss. Radiographic features CT The main findings on CT are: absent modiolus absent interscalar septum wide (most common) or normal cochlear nerve canal Absence of these structu...
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Cochlear incomplete partition type III

Cochlear incomplete partition type III (IP-III), also termed X-linked deafness, is a rare type of genetic cochlear anomaly associated with mixed conductive and sensorineural hearing loss.  Pathology It is caused a mutation in the POU3F4 gene located on the X chromosome. Clinical presentation ...
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Collision tumour of the ovary

A collision tumour of the ovary is an uncommon ovarian neoplasm where there is co-existence of two adjacent but histologically distinct tumours with no histologic admixture at the interface. Pathology The exact pathogenesis is not well known. They are most commonly composed of ovarian teratoma...
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Colloid nodule (thyroid)

Colloid nodules are non-neoplastic benign nodules occurring within the thyroid gland. They form the vast majority of nodular thyroid disease. Pathology Colloid nodules are composed of irregularly enlarged follicles containing abundant colloid. Some colloid nodules can be cystic (cystic colloid...
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Colon polyp

Colon polyps are mucosal outgrowths of the colon wall. They are of interest to physicians and radiologists because of the accepted progression of adenomatous polyps to colon carcinoma. Pathology adenomatous colon polyps tubular polyps tubulovillous polyps villous colon polyps dysplastic co...
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Colovaginal fistula

Colovaginal fistula is one form of genitourinary fistula. It is also sometimes classed under a type of gastro-intestinal fistula. Pathology It refers to a communication between the colon (practically the rectum or sigmoid colon) with the vagina. At times, specific terms are used dependent on ...
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Colovesical fistula

Colovesical fistulas are communications between the lumen of the colon and that of the bladder, either directly or via an intervening abscess cavity (foyer intermediaire). When the communication is between the rectum and urinary bladder, the term rectovesical fistula is used. Epidemiology The ...
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Columnar alteration with prominent apical snouts and secretions

Columnar alteration with prominent apical snouts and secretions (CAPSS) is a pathological entity encountered when breast biopsies are done for investigation of punctate or amorphous calcifications. CAPSS involves the terminal ductal and lobular units (TDLU's). It is sometimes classified under t...
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Combined pulmonary fibrosis and emphysema

Combined pulmonary fibrosis and emphysema (CPFE) are a possible new addition to a growing list of smoking-related lung disease characterised by the coexistence of usual interstitial pneumonia (UIP) or nonspecific interstitial pneumonia (NSIP) with emphysema in smokers. Epidemiology It typicall...
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Comedo type ductal carcinoma in situ

A comedo-type ductal carcinoma in situ, also known as comedocarcinoma in situ is the high grade subtype of ductal carcinoma in situ (DCIS).  It completely fills and dilates the ducts and lobules in TDLU with plugs of high grade tumour cells with central necrosis "comedonecrosis".  It is the mos...
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Common cavity malformation

Common cavity malformation is defined by the absence of the normal differentiation between the cochlea and vestibule replaced by cystic structure. It accounts for about 25% of cochlear malformations 1.  Radiographic features confluence of the cochlea, vestibule and horizontal SCC in a cystic c...
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Common variable immunodeficiency

Common variable immunodeficiency (CVID) is a condition that is associated with an impaired immune system. It is considered the most common symptomatic primary immunodeficiency, and is characterised by recurrent respiratory tract infections. Clinical presentation The commonest presentation is t...
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Common variable immunodeficiency (pulmonary manifestations)

Pulmonary manifestations of common variable immunodeficiency can be variable. The respiratory system is one of the most commenly affected systems in common variable immunodeficiency.  Radiographic disease spectrum CT chest bronchiectasis with interstitial lung disease could either be due to ...
Article

Complete hydatidiform mole with coexistant fetus

Complete hydatidiform mole with coexistant fetus (CHMCF) is an extremely rare entity where as the name suggests there is a twin pregnancy with a complete hydatidiform mole and a normal fetus.  Epidemiology It is seen extremely rarely, with an estimated incidence of one in 22,000–100,000 pregna...
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Complete tracheal rings

Complete tracheal rings are a rare, isolated tracheal or tracheobronchial anomaly resulting from abnormal cartilage growth, forming a complete ring and often causing airway stenosis. Clinical presentation Clinically, it manifests as respiratory distress in infants or mild symptomatic airway co...
Article

Complex breast cyst

Breast cysts may be simple, complicated, or complex. The current preferred term for complex breast cysts is "solid and cystic mass" to avoid confusion with a complicated cyst. Radiographic features Breast ultrasound Complicated cysts albeit well defined contain some low level internal echotex...
Article

Complex fibroadenoma

Complex fibroadenoma is a sub type of fibroadenoma harbouring one or more of the following features: epithelial calcifications papillary apocrine metaplasia sclerosing adenosis and  cysts larger than 3 mm Epidemiology Complex fibroadenomas tend to occur in older patients (median age, 47 ye...
Article

Complex meniscal tear

Complex meniscal tears extend in more than one plane, and can in turn create separate flaps of meniscus.  Radiographic features MRI knee The mensical tear usually includes a combination of radial, horizontal, and longitudinal components (any two or all three). Often the meniscus substance app...
Article

Congenital cataract

Congenital cataracts are a major cause of blindness with early detection the most important factor in reducing impact on future vision.  Epidemiology Incidence is ~3 per 100,000 in the United Kingdom 1. Will be higher in areas with increased rates of congenital infection 5. Risk factors low ...
Article

Congenital insensitivity to pain

Congenital insensitivity to pain (CIP) refers to group of rare hereditary sensory and autonomic neuropathies (HSANs) characterised by an inability to feel pain 1. Terminology Although not clearly defined in the literature, CIP is not one specific diagnosis, but describes symptoms common to man...
Article

Congenital lobar overinflation

Congenital lobar overinflation (CLO), previously called congenital lobar emphysema, is a congenital lung abnormality that results in progressive overinflation of one or more lobes of a neonate's lung.  On imaging, it classically presents on chest radiographs as a hyperlucent lung segment with o...
Article

Congenital lumbar spinal stenosis

Congenital lumbar spinal stenosis (CLSS) is a type of vertebral central canal stenosis and has a different epidemiology with less severe degenerative change compared to acquired/degenerative lumbar spinal stenosis.  Epidemiology CLSS tends to affect patients at a younger age (30-50 years old) ...
Article

Congenital muscular dystrophies (central nervous system manifestations)

Congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive myopathies presenting at birth with hypotonia, delayed motor development, and early onset of progressive muscle weakness, confirmed with a dystrophic pattern on muscle biopsy.  Clinical presentation There is...
Article

Congenital portosystemic shunt

​Congenital portosystemic shunts are rare anatomical abnormalities linked to abnormal embryological venous development. They can be extrahepatic or intrahepatic. In either case, the underlying abnormality is shunting of blood from the portal venous system to the systemic venous system thus avoid...
Article

Congenital pseudoarthrosis of the clavicle

Congenital pseudoarthrosis of the clavicle is a rare condition, which typically presents as an isolated anatomical variant.  Clinical presentation Usually presents as a midclavicular swelling in the neonate or young child 1.  Pathology Congenital pseudoarthrosis of the clavicle is more commo...
Article

Congenital pseudoarthrosis of the tibia

Congenital tibial pseudoarthrosis of the tibia describes abnormal bowing that can progress to a segment of bone loss simulating the appearance of a joint. The condition is usually apparent shortly after birth and is rarely diagnosed after the age of two. Pathology The aetiology is unclear, how...
Article

Congenital radial head dislocation

Congenital radial head dislocation is the most common congenital elbow abnormality. It can occur in isolation, or more commonly may be associated with other conditions or syndromes. Epidemiology Overall, congenital radial head dislocation is rare 2. Clinical presentation Congenital radial he...
Article

Congenital talipes equinovarus

Congenital talipes equinovarus (CTEV) is considered the most common anomaly affecting the feet diagnosed on antenatal ultrasound. Terminology While some use CTEV and club foot (CF) synonymously, in certain publications term clubfoot is considered a more general descriptive term that describes ...

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