Items tagged “syndrome”

311 results found
Article

Achondroplasia

Achondroplasia is a congenital genetic disorder resulting in rhizomelic dwarfism and is the most common skeletal dysplasia. It has numerous distinctive radiographic features.  Epidemiology It occurs due to sporadic mutations in the majority of cases but can be inherited as an autosomal dominan...
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Baastrup syndrome

Baastrup syndrome (also referred to as kissing spines) results from adjacent spinous processes in the lumbar spine rubbing against each other and resulting in hypertrophy and sclerosis with focal midline pain and tenderness relieved by flexion and aggravated by extension.  Epidemiology It tend...
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Budd-Chiari syndrome

Budd-Chiari syndrome refers to the clinical picture that occurs when there is partial or complete hepatic venous outflow obstruction. It is characterised on imaging by ascites, caudate hypertrophy, peripheral atrophy, and prominent collateral veins.  Epidemiology Budd-Chiari syndrome is rare. ...
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CHARGE syndrome

CHARGE syndrome is an acronym that classically describes a combination head and neck, cardiac, CNS and genitourinary disorders: C: coloboma H: heart defects (congenital heart disease) A: atresia (choanal) R: retardation (mental) G: genital hypoplasia E: ear abnormalities/deafness Patholog...
Article

CREST syndrome

CREST syndrome is a variant of progressive systemic sclerosis (PSS) and stands for C - Calcinosis R - Raynaud phenomenon E - oEsophageal dysmotility S - Sclerodactyly T - Telangiectasia See also systemic sclerosis
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Caplan syndrome

Caplan syndrome, also known as rheumatoid pneumoconiosis, is the combination of seropositive rheumatoid arthritis and a characteristic pattern of fibrosis. Although first described in coal miners (coal workers' pneumoconiosis), it has subsequently been found in patients with a variety of pneumo...
Article

Carney complex

Carney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome, which is autosomal dominant and characterised by 1-4: cardiac myxoma often multiple seen in two-thirds of patients with Carney complex skin pigmentation (blue naevi): especially of the ...
Article

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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Coeliac artery compression syndrome

Coeliac artery compression syndrome is also known as coeliac axis syndrome, median arcuate ligament syndrome and Dunbar syndrome. It is characterised by upper abdominal angina secondary to compression of the coeliac trunk by the diaphragmatic crurae. Pathology The median arcuate ligament is th...
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Denervation changes in muscles

Denervation changes in muscles can be observed in a number of settings. Radiographic features MRI in the very early stage, muscle signal may be normal earliest change is increased T2 signal (best seen on a fat saturated T2WI such as STIR) chronic changes are marked by muscle atrophy and fat...
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Fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder resulting from a fragile X “premutation”, defined as 55-200 CGG repeats in the 5’-untranslated region of the FMR1 gene 1. The premutation can expand in subsequent generations (during oogenesis) to...
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Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN), previously known as Hallervorden-Spatz syndrome, is an autosomal recessive disorder causing involuntary spasticity and progressive dementia. It is a subset of neurodegeneration with brain iron accumulation (NBIA). Clinical presentation D...
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Heerfordt syndrome

Heerfordt(-Waldenström) syndrome or uveoparotid fever is a variant of sarcoidosis, comprising of: fever parotid enlargement facial palsy ocular involvement (anterior uveitis) Epidemiology The exact prevalence is unknown, as only isolated case reports exist. Neurologic involvement may occur...
Article

Hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterised by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system. Epidemiology Worldwide prevale...
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Hereditary multiple exostoses

Hereditary multiple exostoses, also known as diaphyseal aclasis, is an autosomal dominant condition, characterised by the development of multiple osteochondromas. Epidemiology Hereditary multiple exostoses demonstrates an autosomal dominant inheritance pattern, with incomplete penetrance in fe...
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Jaffe-Campanacci syndrome

Jaffe-Campanacci syndrome is characterised by: multiple non-ossifying fibromas of the long bones and jaw café au lait spots intellectual disability kyphoscoliosis hypogonadism or cryptorchidism ocular malformations cardiovascular malformations giant cell granuloma of the jaw History and...
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Kasabach-Merritt syndrome

Kasabach-Merritt syndrome, also known as haemangioma thrombocytopaenia syndrome, is a rare life-threatening disease found in infants in which a rapidly growing vascular tumour is responsible for thrombocytopaenia, microangiopathic haemolytic anaemia and consumptive coagulopathy. Pathology Vasc...
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Leigh syndrome

Leigh syndrome, also known as subacute necrotising encephalomyelopathy (SNEM), is a mitochondrial disorder with progressive neurodegeneration that invariably leads to death, usually in childhood. Epidemiology Leigh syndrome is encountered in approximately 1 in 40,000 births, although some popu...
Article

Lemierre syndrome

Lemierre syndrome refers to thrombophlebitis of the jugular veins with distant metastatic sepsis in the setting of initial oropharyngeal infection such as pharyngitis/tonsillitis with or without peritonsillar or retropharyngeal abscess.   Clinical presentation Patients typically present unwell...
Article

Aortoiliac occlusive disease

Aortoiliac occlusive disease refers to complete occlusion of the aorta distal to the renal arteries. Terminology When the clinical triad of impotence, pelvis and thigh claudication, and absence of the femoral pulses are present, it may also be called Leriche syndrome, which usually affects you...

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