Items tagged “cases”

5,504 results found
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IgA vasculitis

IgA vasculitis (formerly known as Henoch-Schönlein purpura (HSP)) is a type of non-thrombocytopenic immune-mediated small vessel acute leukocytoclastic vasculitis. Epidemiology IgA vasculitis tends to occur in the pediatric population (peak incidence 3-10 years) 3. In predominantly White popul...
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Werner syndrome

Werner syndrome is a progeroid rare autosomal recessive condition attributed to chromosome 8. It should not to be confused with similarly sounding Wermer syndrome. Pathology Werner syndrome is characterized by premature senescence cataracts short stature scleroderma-like skin changes such ...
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Slipped upper femoral epiphysis - grading

Grading of SUFE (slipped upper femoral epiphysis) can be made on both AP and true lateral projections.  On an AP radiograph a line along the superior margin of the femoral neck (line of Klein) should intersect the lateral corner of the epiphysis. As the epiphysis slips, the metaphysis can be d...
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Restrictive cardiomyopathy

Restrictive cardiomyopathy is the least common subtype of cardiomyopathy and is characterized by a marked decrease in ventricular compliance.  Clinical presentation Patients can present with symptoms and signs of left ventricular failure and/or right ventricular failure 9.  Pathology It is p...
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Hepatic attenuation on CT

Hepatic attenuation on CT, reflected by Hounsfield values, depends on a combination of factors including the presence or absence, as well as the phase, of IV contrast administration. Allowing for all these factors, the mean unenhanced attenuation value is around 55 HU 4. Pathology Several int...
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Hepatic peliosis

Hepatic peliosis is a rare benign vascular condition characterized by dilatation of sinusoidal blood-filled spaces within the liver. There may be involvement of other organs, most commonly the spleen and bone marrow. It can be seen in a variety of settings and is important as appearances may mim...
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Pseudocalculus sign (common bile duct)

The pseudocalculus sign is a term coined to describe a mimic of a distally impacted common bile duct (CBD) stone on ERCP, MRCP and the various forms of cholangiography, including T-tube, CT, intraoperative, and percutaneous 1. It results from the forceful contraction of the choledochal sphincte...
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Autosplenectomy

Autosplenectomy denotes spontaneous infarction of the spleen with resulting hyposplenism. Epidemiology Autosplenectomy is most frequently encountered in patients with homozygous sickle cell disease, although it has also been reported in pneumococcal septicemia 1, and systemic lupus erythematos...
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Pulmonary artery atresia

Pulmonary artery atresia (or sometimes known as pulmonary atresia) is a congenital cardiovascular anomaly in which there is complete disruption between the right ventricular outflow tract (RVOT) and the pulmonary trunk. Epidemiology The estimated incidence is 1 in 10,000 births. Pathology Th...
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Line of Klein

The line of Klein describes an arbitrary line drawn along the superior edge of the femoral neck, which is useful in detecting early slipped upper femoral epiphysis in adolescents. The line should normally intersect the lateral aspect of the superior femoral epiphysis. Failure of intersection ca...
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Drash syndrome

Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumor gene) and consists of: Wilms tumor male pseudohermaphroditism progressive glomerulonephritis
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Phakomatoses

The phakomatoses (also known as neurocutaneous syndromes) are a heterogeneous group of disorders most characterized by the involvement of structures that arise from the embryonic ectoderm (thus central nervous system, skin, and eyes), although other systems may also be involved. Pathology As a...
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Harrison sulcus

The Harrison sulcus or Harrison groove refers to a groove at the lower end of the rib cage seen in young children/infants with abnormally weak bones (e.g. rickets) or chronic respiratory disease (e.g. severe asthma). The lower chest is drawn in with flaring of the rib margin. The exact cause is ...
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Fitz-Hugh-Curtis syndrome

Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is the inflammation of the liver capsule and overlying peritoneum associated with adhesion formation, without the involvement of the hepatic parenchyma. It is a chronic complication of pelvic inflammatory disease (PID). Epidemiology The preva...
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COACH syndrome

The acronym COACH describes a syndrome associated with: C: cerebellar vermis defect (Joubert syndrome) O: oligophrenia A: ataxia C: coloboma H: hepatic fibrosis Epidemiology COACH syndrome is considered extremely rare. Associations The association with infantile polycystic kidney diseas...
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Meckel-Gruber syndrome

Meckel-Gruber syndrome (MGS) is classically characterized by the triad of: renal cystic dysplasia: multiple renal cysts (present in most cases) occipital encephalocele / holoprosencephaly (~70%) postaxial polydactyly: usually hexadactyly (~65%) Additional hepatic developmental de...
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VATER

VATER (equivalent to VACTERL) is the non-random constellation of a number of congenital anomalies. V: vertebral anomalies A: anal atresia TE: tracheo-oesophageal fistulas R: radial ray hypoplasia, polydactyly, and renal agenesis Epidemiology The prevalence of at least 3/5 anomalies occur...
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Feingold syndrome

Feingold syndrome is characterized by the combination of: microcephaly digital abnormalities alimentary tract atresias especially esophageal atresia
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Currarino syndrome

The Currarino syndrome is a complex condition variably comprised of characteristic congenital anomalies of the sacrum, anorectum and presacral soft tissues. It is also known as the Currarino triad or ASP triad, however, not all three features are always present 6.  anorectal malformation or ...
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Tumors of muscular origin

There are a number of tumors of muscular origin, which overall are relatively uncommon, representing ~2% of benign soft tissue tumors and ~10% of malignant soft tissue tumors 1.  Pathology The tumors can be divided according to the type of muscle fiber: Skeletal muscle origin benign rhabdom...

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