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Mucopolysaccharidosis Type I (Hurler's Syndrome), Prolonged survival with considerable disability without cognitive impairment is usual. MPS Hurler-Scheie (I-H/...
Protein S Deficiency, Both free and total protein S are measured by ELISA methods. Total protein S levels rise with age but free protein S levels are not affecte...
Antiphospholipid Syndrome (Hughes' Syndrome), What is antiphospholipid syndrome? Antiphospholipid syndrome (APS) - also called Hughes' syndrome ...
Carpal Tunnel Syndrome, Carpal Tunnel Syndrome Management Options Each treatment option for Carpal Tunnel Syndrome has various benefits, risks and con...
Tourette's Syndrome, It is also known by the full name of Gilles de la Tourette('s) syndrome. What causes Tourette's syndrome? The cause is not kn...
Ehlers-Danlos Syndrome, Ehlers-Danlos syndrome or syndromes? Until fairly recently, the name 'Ehlers-Danlos syndrome' was used to describe all forms of t...
Hand-arm Vibration Syndrome, What is hand-arm vibration syndrome? Hand-arm vibration syndrome (HAVS) causes symptoms in fingers, hands and arms, as a result of using vibr...
Hunter's Syndrome, Differential diagnosis Hurler's syndrome (MPS IH) - corneal clouding present. Scheie's syndrome (MPS IS). Multiple su...
Morquio's Syndrome, Synonyms: mucopolysaccharidosis type IVA (galactosamine-6-sulfatase deficiency); mucopolysaccharidosis type IVB (beta-galactosidase deficiency) What is Morquio&...
Eisenmenger's Syndrome, What is Eisenmenger's syndrome? Eisenmenger's syndrome is defined as obstructive pulmonary vascular disease that develops as a conse...
Antiphospholipid Syndrome, Differential diagnosis This depends on the clinical features: If thrombosis predominates, other procoagulation states such as protein C, protein S...
Goldenhar Syndrome, Synonyms: hemifacial microsomia, oculo-auriculo-vertebral dysplasia, oculo-auriculo-vertebral spectrum What is Goldenhar syndrome? [ 1 ] Goldenhar ...
POEMS Syndrome, Synonyms: osteosclerotic myeloma, Crow-Fukase syndrome, Takatsuki syndrome POEMS syndrome is defined as the presence of a peripheral neuropathy,...
HELLP Syndrome, It is characterised by: Haemolysis (H) Elevated Liver enzymes (EL) Low Platelet count (LP) NB : most isolated cases of thrombocytopenia in pregnancy are due...
Serotonin Syndrome, Serotonin syndrome treatment If SS is suspected then the likely causative drug(s) should be stopped. Refer patients with severe symptoms or patients w...
Staphylococcal Scalded Skin Syndrome, What is staphylococcal scalded skin syndrome? Staphylococcal scalded skin syndrome (SSSS) is a disease characterised by red, blist...
Toxic Shock Syndrome, Synonyms: streptococcal toxic shock-like syndrome, 'toxic strep' Definition Toxic shock syndrome (TSS) is a multisystem inflammatory ...
Dandy-Walker Syndrome, Recognised single gene defects associated with DWS include Walker-Warburg syndrome or Meckel's syndrome and in these cases the recurrence risk for...
Costochondritis and Tietze's Syndrome, Differential diagnosis The challenge is to distinguish from other causes of chest pain - for example [ 5 ] : Acute coronary ...
Fitz-Hugh Curtis Syndrome, When treating PID, remember to treat not just the patient but the sexual partner(s) too . Complications of Fitz-Hugh Curtis syndrome [ 3 ] ...