Items tagged “cases”

5,502 results found
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Subacute sclerosing panencephalitis

Subacute sclerosing panencephalitis (SSPE), also known as Dawson disease, is a rare chronic, progressive and fatal encephalitis that affects primarily children and young adults, caused by a persistent infection of immune resistant measles virus. Epidemiology  1 in 100,000 people infected with ...
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Rheumatic heart disease

Rheumatic heart disease (not to be confused with rheumatoid heart disease) may refer to either the acute cardiac involvement or chronic cardiac sequelae following rheumatic fever. Carditis is a major Revised Jones criterion of rheumatic fever. Epidemiology Risk factors include: socioeconomic ...
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FBI sign (lipohemarthrosis)

The FBI sign is an acronym referring to the components that form a lipohemarthrosis. It stands for: fat blood interface
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Patellar sleeve fracture

Patellar sleeve (avulsion) fractures are rare injuries occurring in the skeletally immature population. This is an important diagnosis as the displaced bone-forming tissue will continue to grow and ossify, enlarging, and possibly duplicating the patella. Epidemiology Patellar sleeve fractures ...
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J sign (shoulder)

The J sign refers to the appearance of the inferior glenohumeral ligament in the presence of humeral avulsion of the glenohumeral ligament (HAGL lesion) as well as in the less common glenoid avulsion of the glenohumeral ligament (GAGL lesion). Radiographic features MRI The normal U-shaped inf...
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Kaposi sarcoma

Kaposi sarcoma (KS) is a low-to-intermediate grade mesenchymal tumor that involves the lymphovascular system. The tumor can involve the pulmonary, gastrointestinal, cutaneous and musculoskeletal systems. Although it is often thought of as an AIDS-related condition, it may also be seen in other p...
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Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is an extremely rare clinically heterogeneous developmental disorder of unknown etiology. Although the described clinical symptomatology is very broad, the majority of cases include growth impairment, learning disability and dysmorphic facies. Epidemiology The...
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Primary hepatic lymphoma

Primary hepatic lymphoma (PHL) is very rare, with approximately 100 described cases. If it is being considered as a diagnosis, distant lymphadenopathy, splenomegaly, bone marrow disease, and leukemia should not be present for at least 6 months after the liver tumor has been detected (see: second...
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Glycogen storage disease

Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen. Pathology There are many types of GSD: type I: von Gierke disease type II: Pompe disease type III: Cori or Forbes disease type IV: Andersen di...
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Button sequestrum

A button sequestrum is a small sequestrum of devascularised bone surrounded by lucency. Although classically described in osteomyelitis and eosinophilic granuloma it is also occasionally seen in fibrosarcoma and lymphoma. Differential diagnoses osteoid osteoma tuberculous osteomyelitis radi...
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Neural tube defects

Neural tube defect (NTD) refers to the incomplete closure of the neural tube in very early pregnancy, resulting in cranial defects or spinal dysraphism. The neural tube comprises a bundle of nerve sheath which closes to form brain caudally and spinal cord rostrally. The closure should occur at ...
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Pentalogy of Cantrell

The pentalogy of Cantrell is an extremely rare phenomenon with an incidence estimated at around 6 per million live births 3.  It encompasses the following 5 main features 1. omphalocele ectopia cordis (abnormal location of heart) diaphragmatic defect pericardial defect or sternal cleft car...
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Thyroid acropachy

Thyroid acropachy is an unusual presentation of autoimmune thyroid disease (~1% of patients with Graves disease). It can occur in hyperthyroid, euthyroid, hypothyroid, or even post-treatment patients. It is almost always associated with thyroid ophthalmopathy.  Epidemiology The majority of pat...
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Osteoporosis circumscripta cranii

Osteoporosis circumscripta cranii, also known as osteolysis circumscripta, refers to discrete radiolucent regions of the skull on plain radiographs. They are often seen in context of the lytic (incipient-active) phase of Paget disease of the skull, but may be observed in other circumstances as w...
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Mach bands

Mach bands or the Mach effect refers to an optical phenomenon from edge enhancement due to lateral inhibition of the retina 2. This is an inbuilt edge enhancement mechanism of the retina, where the edges of darker objects next to lighter objects will appear darker and vice versa, creating a fals...
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Uterine agenesis

Uterine agenesis is the extreme of Mullerian duct anomalies (Class I) where there is a complete absence of uterine tissue above the vagina.  Epidemiology The uterine agenesis-hypoplasia spectrum accounts for ~10-15% of all Müllerian duct anomalies. Clinical presentation Clinical presentation...
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Botryoid rhabdomyosarcoma

Botryoid rhabdomyosarcoma, also known as sarcoma botryoides, is a type of embryonal rhabdomyosarcoma and accounts for 5-10% of all rhabdomyosarcomas 6.  Epidemiology It tends to occur in pediatric population, often between birth and 15 years of age 7. Pathology Rhabdomyosarcomas generally ha...
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Ewing sarcoma family of tumors

The Ewing sarcoma family of tumors are a group of small round blue cell tumors that are closely histogenetically related, all demonstrating non-random t(11;22)(q24;q12) chromosome rearrangement resulting in the formation of the EWS-ETS fusion gene 1-3.  Terminology Although the literature is l...
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WAGR syndrome

The WAGR syndrome or complex stands for: Wilms tumors (greatly increased risk) aniridia genitourinary anomalies intellectual retardation (disability) Pathology Genetics Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.
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Intraventricular

Intraventricular is a term used to denote lesions/processes that occur within either the ventricles of the brain or the ventricles of the heart.  In both cases, most lesions actually arise from the surrounding brain parenchyma/heart muscle and grow exophytically into the ventricles.  See also ...

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