Articles

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More than 200 results
Article

Hunter syndrome

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II) is a rare genetic mucopolysaccharidosis disorder characterized by specific clinical features 1. Epidemiology Hunter syndrome is an X-linked recessive disease and therefore much more common in males. It is a rare disorder wit...
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Radial tunnel syndrome

Radial tunnel syndrome is an entity that refers to entrapment (tunnel syndrome) of the radial nerve in the forearm, as it occurs in the supinator syndrome. Some authors believe this is an early form of the posterior interosseous nerve syndrome 5. Epidemiology There may be a female predilection...
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Pudendal nerve entrapment syndrome

Pudendal nerve entrapment (PNE) syndrome is a rare and under-diagnosed condition associated with chronic pain, sexual dysfunction and impaired sphincter control due to pudendal nerve compression. Clinical presentation PNE commonly manifests as neuropathic pain in the genitals, perineum or anus...
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Parkes Weber syndrome

Parkes Weber syndrome or less commonly F P Weber syndrome is a traditional eponymous denomination of a certain type of angiodysplasia, that would nowadays rather be called a mixed hemolymphatic congenital vascular malformation (CVM) with arteriovenous (AV) shunting, based on the Hamburg classifi...
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Hemolytic uremic syndrome

Hemolytic uremic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterized by the triad of renal failure, hemolytic anemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.  There are two forms of this syndrom...
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Catel-Manzke syndrome

Catel-Manzke syndrome is a digitopalatal syndrome initially described in 1961. Inheritance pattern is unknown. Radiographic findings include micronagthia and accessory ossicles at the bases of the metacarpals.
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Serrated polyposis syndrome

Serrated polyposis syndrome (SPS), also called hyperplastic polyposis syndrome, is one of numerous polyposis syndromes and is characterized by the presence of multiple serrated polyps or a mixture of serrated and hyperplastic polyps, with the exact number required for diagnosis dependent on loca...
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Trousseau syndrome

Trousseau syndrome is an inconsistently defined entity which broadly represents the association between thromboembolism and malignancy, often prior to or concomitantly with the diagnosis of the underlying malignancy 1. The syndrome has been variably defined to include entities such as migratory...
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Enchondromatosis

Enchondromatosis, also known as Ollier disease (see Terminology section), is a non-hereditary, sporadic, skeletal disorder characterized by multiple enchondromas principally located in the metaphyseal regions. Terminology Some authors make a distinction between Ollier disease and enchondromato...
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Lennox-Gastaut syndrome

Lennox-Gastaut syndrome is an epileptic encephalopathy characterized by refractory childhood-onset epilepsy accompanied by intellectual disability and psychiatric/behavioral disturbance. Epidemiology Lennox-Gastaut syndrome is thought to represent 1-2% of all patients with epilepsy 6. The cond...
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Dravet syndrome

Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is a rare form of epilepsy usually presenting in the first 1-2 years of life. Clinical presentation The typical presentation occurs during the first six months to one year of life as tonic-clonic seizures (includ...
Article

Shrinking lung syndrome

Shrinking lung syndrome refers to a rare thoracic complication of systemic lupus erythematosus (SLE) characterized by: unexplained dyspnea restrictive pattern on pulmonary function tests elevated hemidiaphragm Epidemiology As with SLE in general, it is thought to carry a increased female pr...
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Top of the basilar syndrome

Top of the basilar syndrome, also known as rostral brainstem infarction, occurs when there is thromboembolic occlusion of the top of the basilar artery. This results in bilateral thalamic ischemia due to occlusion of perforator vessels. Clinical presentation Clinically, top of the basilar synd...
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Metaphyseal chondrodysplasia

Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia. It can occur as part of Shwachman-Diamond syndrome (SDS). Pathology Classification Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cuppe...
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Sézary syndrome

Sézary syndrome (SS) is a type of primary cutaneous T-cell lymphoma.  Clinical presentation It is clinically characterized by an extensive erythematous rash covering most of the body as well as the presence of malignant lymphocytes in the blood. History and etymology It is named after Albert...
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Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis (IPF) is a clinical syndrome and considered the most common and the most lethal form of pulmonary fibrosis corresponding to the histologic and imaging pattern of usual interstitial pneumonia. It is more common in elderly men and diagnosed by:  histological or imagi...
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White cord syndrome

White cord syndrome refers to the sudden onset of neurological deterioration following spinal decompressive surgery. The condition is believed to be a form of reperfusion injury of the spinal cord, not to be confused with central cord syndrome. Epidemiology White cord syndrome is rare with onl...
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Chudley-McCullough syndrome

Chudley-McCullough syndrome is an extremely rare autosomal recessive disorder characterized by early-onset sensorineural hearing loss and a distinctive combination of structural brain abnormalities, with relative preservation of psychomotor development. Epidemiology Chudley-McCullough syndrome...
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Williams syndrome

Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterized by some or all of the following features: craniofacial dysmorphism (e.g. elfin facies) oral abnormalities short stature (50% of cases) mild to moderate intellectual disability  supravalvular aortic stenosis ...
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Amnestic syndrome of the subcallosal artery

Amnestic syndrome of the subcallosal artery describes an acute amnestic syndrome secondary to ischemic stroke affecting the subcallosal artery which leads to infarction of the bilateral fornices. Epidemiology The exact incidence of amnestic syndrome of the subcallosal artery is not known, but ...

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