Articles

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703 results found
Article

Cerebral hyperperfusion syndrome

Cerebral hyperperfusion syndrome is a rare complication seen after treatment of long-standing severe carotid stenosis by carotid endarterectomy or carotid artery stenting. It is believed to be the result of failure of normal cerebral blood flow autoregulation.  Terminology Cerebral hyperperfus...
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Neck-tongue syndrome

Neck-tongue syndrome is a rare syndrome characterized by altered sensation in one side of the tongue with ipsilateral neck pain triggered or aggravated by rotatory neck movement.  Epidemiology Neck tongue syndrome is seen in a wide range of ages but is most commonly reported in older children,...
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Dialysis access-associated steal syndrome

Dialysis access-associated steal syndrome or haemodialysis access-related hand ischemia arises as a complication of arteriovenous (AV) access. Epidemiology Symptomatic dialysis access-associated steal syndrome has been reported in up to 6% of AV access patients ref. Prevalence is higher in bra...
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Reactive arthritis

Reactive arthritis (ReA) is a sterile inflammatory monoarticular or oligoarticular arthritis that follows an infection at a different site, commonly enteric or urogenital. It is classified as a type of seronegative spondyloarthropathy. Terminology Reactive arthritis was formerly known as Reite...
Article

Pituitary stalk interruption syndrome

Pituitary stalk interruption syndrome, also known as pituitary stalk transection syndrome, is a syndrome characterized by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location. Epidemiology Pituitary stalk interruption syndrome...
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Guillain-Barré syndrome

Guillain-Barré syndrome (GBS) is a heterogeneous group of autoimmune polyradiculopathies, involving sensory, motor, and autonomic nerves. It is the most common cause of rapidly progressive flaccid paralysis. It is believed to be one of a number of related conditions, sharing a similar underlying...
Article

Anti-GQ1b antibody syndrome

Anti-GQ1b antibody syndrome refers to a spectrum of neurological conditions which share autoantibodies to the ganglioside complex GQ1b, and have overlapping clinical presentations.  Clinical presentation Typical anti-GQ1b antibody syndromes with ophthalmoplegia include 1,3:  Miller Fisher syn...
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Bertolotti syndrome

Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae and low back pain. Although it may be a consideration in younger patients, the entity is considered controversial and has been both supported and disputed. Some studies suggest lumbosacral transitional vert...
Article

Maffucci syndrome

Maffucci syndrome is a congenital nonhereditary, sporadic, mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations and/or spindle-cell hemangiomas 6,7, generally caused by somatic mutations in IDH1 or IDH2 6. On imaging, it is usually portrayed by a sho...
Article

Hemoglobinopathies

A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin 1. The result is reduced oxygen-carrying capacity of the blood to the tissues, and other sequelae. Clinical presentation Clinical presentation varies, is related to hypoxia, and characteristically includes the fo...
Article

Kartagener syndrome

Kartagener syndrome (also known as Kartagener-Afzelius syndrome) is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure or function, leading to impaired mucociliary clearance.  Epidemiology The prevalence of primary ciliary dyski...
Article

Robinow syndrome

Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms. Terminology Fetal face syndrome and Robinow-Silverman syndrome are the other synonyms for this genetic disorder. Formerly it was known as costovertebral segmentation defect with mesomelia 8. Epidemiolo...
Article

Waardenburg syndrome

Waardenburg syndrome is a rare neurocristopathy, with congenital pigmentary disorder secondary to an abnormal distribution of neural crest-derived melanocytes during embryogenesis resulting in patchy areas of depigmentation. It is considered in the investigation of congenital sensorineural deafn...
Article

HIV-associated nephropathy

HIV-associated nephropathy (HIVAN) is commonly seen in patients with HIV/AIDS and leads to end-stage renal disease (ESRD). The diagnosis is not imaging-based and must be confirmed by renal biopsy. Epidemiology HIVAN is seen in patients at advanced stages of HIV and AIDS, but it can also be see...
Article

Turner syndrome

Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females.  Epidemiology The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of affected fet...
Article

Stiff person syndrome

Stiff person syndrome, previously known as stiff man syndrome, is a very rare neuromuscular disease. Epidemiology Onset is usually between 30 and 50 years of age. Associations An association with autoimmune disease, in particular type 1 diabetes mellitus, and various malignancies is describe...
Article

Camptocormia

Camptocormia, also known as bent spine syndrome or cyphose hystérique, is a rare syndrome characterized by involuntary flexion of the thoracolumbar spine with weight-bearing which reduces when lying down, and is due to isolated atrophy of the paraspinal muscles. Epidemiology In a small case se...
Article

Idiopathic retroperitoneal fibrosis

Idiopathic retroperitoneal fibrosis, also known as Ormond disease or occasionally Albarran-Ormond syndrome 6, is a subtype of retroperitoneal fibrosis where no cause is found. It includes a spectrum of diseases that are characterized by fibroinflammatory tissue encasing the abdominal aorta and t...
Article

Holt-Oram syndrome

Holt-Oram syndrome (HOS), also known as heart-hand syndrome, is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies:  congenital heart defects  atrial septal defect (ASD) (commonest cardiac defect 4) ventricular septal defect (VSD) aortic coarctat...
Article

Straight back syndrome

Straight back syndrome refers to decreased thoracic kyphosis ("flattening") and decreased anteroposterior thoracic diameter, such that there is compression of cardiovascular or bronchial structures.  Terminology Straight back syndrome should not be confused with flat back syndrome, which refer...

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