Articles

Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

21 results found
Article

All-trans retinoic acid syndrome

All-trans retinoic acid (ATRA) syndrome, more recently known as differentiation syndrome (DS) 8, is a condition that can occur with patients with acute promyelocytic leukaemia who are on therapeutic all-trans-retinoic acid (ATRA). All-trans-retinoic acid (ATRA) is a normal constituent of plasma...
Article

Antiphospholipid syndrome

Antiphospholipid syndrome is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischaemic events occurring in patients who have circulating antiphospholipid antibodies. Clinical presentation Antiphospholipid syndrome is characterised by veno...
Article

Bing-Neel syndrome

Bing-Neel syndrome is an extremely rare neurological complication of Waldenström macroglobulinaemia where there is malignant lymphocyte infiltration into the central nervous system (CNS). Epidemiology The exact incidence is unknown, however, in one study of patients with Waldenström macroglobu...
Article

Diamond-Blackfan anaemia

Diamond-Blackfan anaemia (DBA) (previously known as congenital hypoplastic anaemia) is the primary congenital form of pure red cell aplasia. It is a rare sporadic genetic form of anaemia that typically presents in the first few years of life, and usually only affects cells of the erythroid linea...
Article

Disseminated intravascular coagulation

Disseminated intravascular coagulation (DIC), also known as consumption coagulopathy or defibrination syndrome, refers to a systemic phenomenon of overactivation of coagulation and fibrinolysis resulting in widespread clots forming inside blood vessels. Clinical presentation Patients present w...
Article

Episodic angioedema with eosinophilia

Episodic angioedema with eosinophilia (EAE), also known as Gleich syndrome, is a rare condition presenting as a self-limiting cyclic urticaria, fever, angioedema, weight gain and marked eosinophilia, with 3-4 weekly episodes 1. Epidemiology Episodic angioedema with eosinophilia is rare, only a...
Article

Felty syndrome

Felty syndrome is a rare haematological syndrome in rheumatoid arthritis. Epidemiology It is thought to occur in ~ 1% of patients with rheumatoid arthritis 2. Clinical presentation Felty syndrome comprises of the triad of: rheumatoid arthritis ​typically with severe articular and extra-art...
Article

Haemoglobinopathies

A haemoglobinopathy is a genetic disorder which alters the structure of haemoglobin 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 ...
Article

Haemolytic uraemic syndrome

Haemolytic uraemic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterised by the triad of renal failure, haemolytic anaemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.  There are two forms of this syn...
Article

Haemophagocytic lymphohistiocytosis

Haemophagocytic lymphohistiocytosis (HLH) is a non-malignant but often-fatal disorder of immune dysregulation affecting multiple organs. It is also known as macrophage activation syndrome when occurring in the setting of a rheumatologic disorder. Epidemiology It typically affects infants and y...
Article

Hyperimmunoglobulin IgE syndrome

Hyperimmunoglobulin E (hyper IgE) syndrome (HIES), also known as Job syndrome, consists of a heterogeneous group of complex hereditary combined B- and T-cell immune deficiency diseases characterised by recurrent Staphylococcus aureus chest infections, characteristic coarse facial appearance and ...
Article

Li-Fraumeni syndrome

Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumour suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1. Associated malignancies sarcomas osteosarcoma rhabdomyosarcoma CNS tumours gliom...
Article

Neuroacanthocytosis syndromes

Neuroacanthocytosis syndromes (NAS), previously known collectively as Levine-Critchley syndrome, are characterised by basal ganglia degeneration, acanthocytosis, and normal serum lipoprotein. There are four core NAS: chorea-acanthocytosis (ChAc) McLeod syndrome (MLS) Huntington disease-like ...
Article

Paraneoplastic syndromes

Paraneoplastic syndromes occur secondary to the indirect effects of a malignancy and occur remotely to the primary malignancy. Symptoms are mediated by cytokines, hormones or immune cross-reactivity. These syndromes can cause a diverse range of symptoms and can affect multiple systems. Epidemio...
Article

POEMS syndrome

POEMS syndrome is the acronymic name for a rare multisystem paraneoplastic disorder comprising of a minimum of three of the following features in the setting of a plasma cell dyscrasia: P: polyneuropathy O: organomegaly hepatomegaly, splenomegaly or lymphadenopathy E: endocrinopathy diabete...
Article

Rosai-Dorfman disease

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman-Destombes disease, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes. Epidemiology The disease predominantly occurs in young adults with a mean age at pre...
Article

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterised by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features. Epidemiology The estimated incidence is 1 in 100,000-125,000 live births 5. Clinical...
Article

Sezary syndrome

Sézary syndrome (SS) is a type of primary cutaneous T-cell lymphoma.  Clinical presentation It is clinically characterised 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

Sickle cell disease (acute chest syndrome)

Acute chest syndrome (ACS) in sickle cell disease is a leading thoracic complication - as well as leading cause of mortality - in those affected by sickle cell disease. The diagnosis is made on the combination of new pulmonary opacity on chest x-ray with at least one new clinical symptom or sign...
Article

Sweet syndrome

Sweet syndrome (acute febrile neutrophilic dermatosis) is characterised by a constellation of clinical symptoms, physical features, and pathologic findings which include: fever neutrophilia tender erythematous skin lesions (papules, nodules and plaques) a diffuse infiltrate consisting predom...
Article

Trousseau syndrome

Trousseau syndrome (not to be confused with Trousseau sign) represents the association between migratory thrombophlebitis and malignancy, particularly mucin-producing tumours; hence one of its other names: cancer-associated thromboembolism 1. History and etymology  Armand Trousseau (1801-1867)...

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.