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 continuously improved upon by countless contributing members. Our dedicated editors oversee each edit for accuracy and style. Find out more about articles.
26 results found
Article
VEXAS syndrome
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe, treatment-refractory, monogenic, multiorgan, autoinflammatory condition with vasculitic and hematological complications.
Epidemiology
VEXAS syndrome is likely to be rare, but also likely to be underdiagnosed...
Article
Bing-Neel syndrome
Bing-Neel syndrome is an extremely rare neurological complication of Waldenström macroglobulinemia 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 macroglobul...
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
Hemolytic uremic syndrome
Hemolytic uremic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterized by the triad of renal failure, hemolytic anemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.
There are two forms of this syndrom...
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 characterized by recurrent Staphylococcus aureus chest infections, characteristic coarse facial appearance and ...
Article
Trousseau syndrome
Trousseau syndrome is an inconsistently defined entity which broadly represents the association between thromboembolism and malignancy, often prior to or concomitantly with the diagnosis of the underlying malignancy 1.
The syndrome has been variably defined to include entities such as migratory...
Article
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...
Article
Sickle cell disease (acute chest syndrome)
Acute chest syndrome 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 opacities on chest radiograph with at least one new clinical symptom or sig...
Article
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized 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
Antiphospholipid syndrome
Antiphospholipid syndrome (APLS) is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischemic events occurring in patients with circulating antiphospholipid antibodies.
Clinical presentation
Antiphospholipid syndrome is characterized by ve...
Article
Diamond-Blackfan anemia
Diamond-Blackfan anemia (DBA) (previously known as congenital hypoplastic anemia) is the primary congenital form of pure red cell aplasia. It is a rare sporadic genetic form of anemia that typically presents in the first few years of life, and usually only affects cells of the erythroid lineage ...
Article
Hemophagocytic lymphohistiocytosis
Hemophagocytic 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 yo...
Article
Li-Fraumeni syndrome
Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumor 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 tumors
gliomas...
Article
Ophelia syndrome
Ophelia syndrome is the association of Hodgkin lymphoma with an autoimmune limbic encephalitis, as a result of anti-metabotropic glutamate receptor 5 antibodies (mGluR5) 1. In addition to anti-mGluR5, many other antibodies are associated with or implicated in autoimmune encephalitis in the setti...
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
Neuroacanthocytosis syndromes
Neuroacanthocytosis syndromes (NAS), previously known collectively as Levine-Critchley syndrome, are characterized by basal ganglia degeneration, acanthocytosis, and normal serum lipoprotein.
There are four core NAS:
chorea-acanthocytosis (ChAc)
McLeod syndrome (MLS)
Huntington disease-like ...
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
Shwachman-Diamond syndrome
Shwachman-Diamond syndrome, also known as Shwachman-Bodian-Diamond syndrome, is a rare autosomal recessive disorder characterized by 1:
exocrine pancreatic insufficiency
metaphyseal chondrodysplasia
bone marrow hypoplasia (cyclic neutropenia)
Epidemiology
Shwachman-Diamond syndrome is a rar...
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
Nezelof syndrome
Nezelof syndrome is a hereditary primary immunodeficiency state caused by thymic dysplasia, lack of T cell function and normal levels of immunoglobulins.
Epidemiology
Nezelof syndrome is extremely rare.
Clinical presentation
Common clinical features include 4,5
failure to thrive
metaphysea...
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