Articles

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705 results found
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...
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...
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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 ...
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 ...
Article

Internuclear ophthalmoplegia

Internuclear ophthalmoplegia (INO) describes a clinical syndrome of impaired adduction in one eye with dissociated horizontal nystagmus of the other abducting eye, due to a lesion in the medial longitudinal fasciculus (MLF) ipsilateral to the eye unable to adduct. It is a common finding in multi...
Article

Collet-Sicard syndrome

Collet-Sicard syndrome, also known as condylar jugular syndrome, is a constellation of cranial nerve palsies due to neoplastic or non-neoplastic lesions at the jugular foramen 1,2. Clinical presentation Vernet syndrome, consisting of motor paralysis of glossopharyngeal nerve (CN IX) vagus ne...
Article

Toxic shock syndrome

Toxic shock syndrome (TSS) is a severe bacterial-toxin mediated condition, characterized by an initial soft tissue infection, which rapidly progresses to systemic disease and circulatory collapse 5. It is due to a Gram positive infection, most frequently Staphylococcus aureus or Streptococcus py...
Article

Fahr syndrome

Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterized by abnormal vascular calcium deposition, particularly in the basal ganglia, cerebellar dentate nuclei, and white matter, with subsequent atrophy. It can be either primary (usually autosomal dominant) or se...
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Hughes-Stovin syndrome

Hughes-Stovin syndrome (HSS) is a vasculitis that predominantly affects large vessels. The disease bears some resemblance to Behçet disease. Epidemiology Hughes-Stovin syndrome is very rare 7. It occurs predominantly between the 2nd to 4th decades. There is a recognized male predilection.  Cl...
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Lethal omphalocele-cleft palate syndrome

Lethal omphalocele-cleft palate syndrome is, as the name suggests, characterized by the association of omphalocele and cleft palate.  Prevalence is assumed to be <1 per 1,000,000. It has been postulated that this syndrome is likely to be an autosomal recessive condition 1. History and etymolog...
Article

Sclerosteosis

Sclerosteosis is a rare autosomal recessive bone dysplasia resulting in sclerosis and hyperostosis, particularly of the skull, mandible and tubular bones. It is closely related to Van Buchem disease 1. Epidemiology Sclerosteosis is a very rare disease, with only around 100 cases reported. Ther...
Article

18q deletion syndrome

18q deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...
Article

Middle East respiratory syndrome coronavirus (MERS-CoV) infection

Middle East respiratory syndrome coronavirus (MERS-CoV) infection is an uncommon coronavirus infection (<1000 cases) with the first case reported in Saudi Arabia in 2012. It most commonly causes pneumonia and acute renal failure with a mortality rate of ~40%. MERS-CoV raises concern because of i...
Article

Achenbach syndrome

Achenbach syndrome, also known as paroxysmal finger hematomas or acute idiopathic blue finger, is a rare disorder characterized by spontaneous rupture of digital arteries with resultant hematomas 1-3. Epidemiology Achenbach syndrome is more common in women, typically in middle to older age (30...
Article

Platypnoea-orthodeoxia syndrome

Platypnoea-orthodeoxia syndrome refers to the concomitant occurrence of dyspnea and hypoxemia, respectively, which are precipitated by assuming an upright position and alleviated by assuming a recumbent position 4. Clinical presentation As the name of the syndrome suggests, the hallmark clinic...

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