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.
336 results found
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
Fanconi anemia
Fanconi anemia is a rare disorder characterized by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies (often acute myeloid leukemia). Bone marrow failure usually results in decreased production of all blood cells. It is considered the commonest ...
Article
Hemoglobin SC disease
Hemoglobin SC (HbSC) disease is a hemoglobinopathy, and a common variant of sickle cell disease (SCD). There is coinheritance of one HbS gene and one HbC gene, resulting in a milder phenotype than full-blown sickle cell disease. It most commonly manifests with a proliferative retinopathy. Painfu...
Article
Hemoglobinopathies
A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin 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 fo...
Article
Protein S deficiency
Protein S deficiency is a hypercoagulable state associated with increased risk of venous thrombosis (up to 5% of patients with deep venous thrombosis may carry this deficiency).
Epidemiology
Protein S deficiency may be expected in ≈1 of every 500 people 3.
Clinical presentation
The spectrum ...
Article
Nodular lymphoid hyperplasia
Nodular lymphoid hyperplasia (NLH) is a type of rare, benign, lymphoproliferative disease. It is most commonly reported affecting the gastrointestinal and respiratory systems.
The presence of gut/mucosa associated lymphoid tissue (GALT/MALT) can be seen in children and young adults as a normal ...
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
Secondary involvement of the bone with lymphoma
Secondary involvement of the bone with lymphoma, also referred as secondary bone lymphoma, is much more common than primary bone lymphoma, occurring in ~15% of disseminated lymphomas.
Terminology
Secondary bone lymphoma is defined as lymphoma involving the bone with nodal disease occurring wit...
Article
Vitamin B6 deficiency
Vitamin B6 deficiency (also known as hypovitaminosis B6) is rare, as the B6 vitamers are present in many commonly-consumed foodstuffs. It is most commonly seen in the context of chronic ethanol excess, although many other risk factors are known. In children, deficiency may manifest as seizures. ...
Article
Sideroblastic anemia
Sideroblastic anemia (also known as sideroachrestic anemia) is a rare cause of anemia characterized by the presence of ring sideroblasts rather than normal red blood cells in the bloodstream. Sideroblastic anemia is either congenital or acquired.
Clinical presentation
Symptoms and signs reflec...
Article
Wells criteria for pulmonary embolism
The Wells criteria for pulmonary embolism is a risk stratification score and clinical decision rule to estimate the probability for acute pulmonary embolism (PE) in patients in which history and examination suggests acute PE is a diagnostic possibility. It provides a pre-test probability which, ...
Article
Leukemic cell lysis pneumopathy
Leukemic cell lysis pneumopathy, also referred to as acute lysis pneumopathy, refers to an acute respiratory failure that can occur in patients with leukemia after the initiation of chemotherapy, particularly in those with hyperleukocytosis. On imaging, it manifests with features of acute respir...
Article
Small lymphocytic lymphoma
Small lymphocytic lymphoma (SLL) is a non-Hodgkin lymphoma affecting the B-lymphocytes of the immune system. This condition is now considered different manifestations of the same disease process as chronic lymphocytic leukemia (CLL). On imaging, they are mostly depicted as lymphadenopathy.
Pa...
Article
Copper deficiency
Copper deficiency (also known as hypocupremia) is unusual due to the ubiquity of copper in the normal diet.
Epidemiology
Copper deficiency is thought to be rare, but exact numbers are difficult to ascertain.
Clinical presentation
The typical presentation of copper deficiency mimics the more ...
Article
Acute promyelocytic leukemia
Acute promyelocytic leukemia (APML) is a distinct subtype of acute myeloid leukemia.
Pathology
Genetics
It is defined by a balanced translocation between chromosomes 15 and 17 resulting in fusion of the promyelocytic leukemia gene (PML) on chromosome 15 with the retinoic acid receptor alpha g...
Article
Polyglandular autoimmune syndromes
Polyglandular autoimmune syndromes (PAS) are a rare set of diseases characterized by the presence of ≥2 autoimmune endocrine disease.
Pathology
Three types of PAS have been described.
PAS type I
a.k.a. APECED (autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy) or MEDAC (mu...
Article
Non-lymphomatous pulmonary lymphoid disorders
There are several non-lymphomatous lymphoid disorders that can affect the lung. This implies that they consist of lymphoid tissue but may not have progressed as far as an overt lymphoma. They include:
Castleman disease
plasma-cell granuloma
lymphocytic interstitial pneumonia
angioimmunoblast...
Article
Folate deficiency
Folate deficiency (hypovitaminosis B9) is the most common vitamin deficiency in the Western world. It is especially important in pregnant women and common amongst alcoholics.
Epidemiology
Deficiency arises in two distinct populations:
increased demand (pregnancy and lactation)
decreased abs...
Article
Ariboflavinosis
Ariboflavinosis is the term given to riboflavin (vitamin B2) deficiency.
Epidemiology
Ariboflavinosis has been seen in both developed and developing countries, and across the socioeconomic spectrum. It is usually present in the context of other hypovitaminoses.
It has been found to more comm...
Article
Hypervitaminosis E
Hypervitaminosis E (or hypertocopherolaemia) is very rare as vitamin E has low toxicity even in large doses.
Clinical presentation
In published case reports, patients have presented with a bleeding tendency e.g. cerebral hemorrhage 1. These affected individuals have imbibed supraphysiological...
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