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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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.
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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...
Article
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 ...
Article
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 ...