Articles

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703 results found
Article

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy (HMSN), refers to a heterogeneous group of inherited peripheral neuropathies rather than a single clinical entity 9. Epidemiology The prevalence of CMT in one Norwegian study was 82.3 cases per 100,000 peo...
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Fitz-Hugh-Curtis syndrome

Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is the inflammation of the liver capsule and overlying peritoneum associated with adhesion formation, without the involvement of the hepatic parenchyma. It is a chronic complication of pelvic inflammatory disease (PID). Epidemiology The preva...
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Lemierre syndrome

Lemierre syndrome (also known as postanginal septicemia) refers to thrombophlebitis of the internal jugular vein(s) with distant metastatic anaerobic septicemia in the setting of initial bacterial oropharyngeal infection such as pharyngitis/tonsillitis into lateral pharyngeal spaces of the neck ...
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Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition. Clinical presentation The clinical spectrum includes: retinal anomalies: similar to that of retinitis pigmentosa intellectual disability rena...
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Osmotic demyelination syndrome

Osmotic demyelination syndrome refers to acute demyelination seen in the setting of osmotic changes, typically with the rapid correction of hyponatremia. It is the preferred term replacing central pontine myelinolysis, recognizing that extrapontine structures can also be affected, previously kno...
Article

Posterior choroidal artery stroke

Posterior choroidal artery occlusion uncommonly presents as an isolated stroke syndrome.  It usually coexists with posterior cerebral artery and often superior cerebellar artery involvement.  When seen in isolation damage is characteristically limited to the: lateral geniculate body pulvinar ...
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Acute aortic syndrome

Acute aortic syndrome describes the presentation of patients with one of a number of life-threatening aortic pathologies that give rise to similar clinical presentations. Exactly which entities are included under the umbrella term acute aortic syndrome varies somewhat from publication to public...
Article

Bone marrow edema syndrome

Bone marrow edema syndrome refers to a group of transient, self-limiting clinical entities of unknown cause, which are associated with the presence of bone marrow edema pattern. These conditions include: transient osteoporosis of the hip bone marrow edema syndrome of the foot and ankle regio...
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Morquio syndrome

Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV. Epidemiology Incidence estimated at ~1:40,000. Clinical presentation Many cases present at ~2 years of age and have normal intelligence. Cl...
Article

Doege-Potter syndrome

Doege-Potter syndrome is a paraneoplastic non-islet cell tumor hypoglycemia, secondary to a solitary fibrous tumor, most commonly pulmonary, secreting insulin-like growth factor-2 (IGF-2). It is rare and more often found with higher grade solitary fibrous tumors 1-4. 
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

Superior vena cava obstruction

Superior vena cava obstruction (SVCO) can occur from extrinsic compression, intrinsic stenosis, or thrombosis of the superior vena cava. Malignancies are the main cause and are considered an oncologic emergency. Superior vena cava syndrome (SVCS) refers to the clinical syndrome with symptoms tha...
Article

Multisystem inflammatory syndrome in children

Multisystem inflammatory syndrome in children (MIS-C) or pediatric inflammatory multisystem syndrome (PIMS) is an emerging pediatric disease occurring after prior SARS-CoV-2 infection and is therefore strongly associated with the ongoing COVID-19 pandemic.  Terminology The World Health Organiz...
Article

Thoracic outlet syndrome

Thoracic outlet syndrome refers to a group of clinical syndromes caused by congenital or acquired compression of the brachial plexus or subclavian vessels as they pass through the superior thoracic aperture 11.  Clinical presentation Clinical presentation will depend on the structure compresse...
Article

Muscle-eye-brain disease

Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities. Clinical presentation There is severe intellectual di...
Article

Post-thrombotic syndrome

Post-thrombotic syndrome (PTS) is a syndrome of chronic venous insufficiency following deep vein thrombosis (DVT) due to valvular incompetence, which results in chronic reflux and chronic venous hypertension. Epidemiology PTS is a common complication following extensive DVT of the limbs. Up to...
Article

Galloway-Mowat syndrome

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly. Epidemiology Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide...
Article

X-linked Opitz G/BBB syndrome

X-linked Opitz G/BBB syndrome (XLOS) is an x-linked disorder with a spectrum of congenital anomalies. Anomalies that may be seen are: facial anomalies  ocular hypertelorism prominent forehead widow's peak broad nasal bridge anteverted nares cleft lip and/or palate  laryngotracheoesophage...
Article

Wernicke aphasia

Wernicke aphasia, also known as receptive aphasia or sensory aphasia, is a type of fluent aphasia usually caused by injury (e.g. stroke) to the dominant posterior temporal lobe (Wernicke's area) 1,2. Clinical presentation Wernicke aphasia has classic effects on speech 1,2: fluency: fluent spe...
Article

Proteus syndrome

Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer. Clinical presentation Affected patients usually appear nor...

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