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.
42 results found
Article
Bardet-Biedl syndrome
Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.
Clinical presentation
The clinical spectrum includes:
retinal anomalies: similar to that of retinitis pigmentosa
intellectual disability
rena...
Article
Waterhouse-Friderichsen syndrome
Waterhouse-Friderichsen syndrome, also known as purpura fulminans 9 or hemorrhagic adrenalitis 10, is characterized by adrenal insufficiency that results from atraumatic adrenal hemorrhage in consequence of septicemia.
Pathology
Waterhouse-Friderichsen syndrome is due to septicemia and common...
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
McCune-Albright syndrome
McCune-Albright syndrome (MAS) (also known as McCune-Albright-Sternberg syndrome) is a genetic disorder characterized by the triad:
endocrinopathy: precocious puberty
polyostotic fibrous dysplasia: more severe than in sporadic cases
cutaneous pigmentation: coast of Maine 'café au lait' spots
...
Article
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
Article
Alport syndrome
Alport syndrome is a hereditary disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
Clinical presentation
hematuria
sensorineural hearing loss: typically high frequency 2
ocular abnormalities
anterior lenticonus which may result in c...
Article
Multisystemic smooth muscle dysfunction syndrome
Multisystemic smooth muscle dysfunction syndrome is a rare genetic disorder caused by mutations in the ACTA2 gene, resulting in intracranial steno-occlusive disease and aortic dissection or aneurysm, among other complications.
Epidemiology
Most cases are diagnosed in childhood 1.
Clinical pre...
Article
Hepatorenal syndrome
Hepatorenal syndrome refers to a form of acute kidney injury caused by changes in renal blood flow regulation due to liver pathology 1. Although the syndrome occurs mainly in cirrhotic livers it has been reported in patients with acute fulminant liver failure as well 1.
Epidemiology
The incide...
Article
Primary hyperaldosteronism
Primary hyperaldosteronism is a condition of excess aldosterone production and occurs secondary to bilateral adrenal hyperplasia, adrenal cortical adenoma, or rarely, adrenal carcinoma. When primary hyperaldosteronism is due to aldosterone-producing adenoma it is called Conn syndrome 2,3,9. Diff...
Article
Cystinosis
Cystinosis, also known as Abderhalden Kaufmann Lignac syndrome, is the most common hereditary cause of renal Fanconi syndrome. Cystinosis is one of the lysosomal storage disorders.
Epidemiology
It has a reported incidence of 1:192,000 1. Cystinosis is typically diagnosed in infancy.
Clinica...
Article
Mainzer-Saldino syndrome
Mainzer-Saldino syndrome (also known as conorenal syndrome (CRS)) is a rare condition and is one of the ciliopathies. It is due to mutations in the IFT140 gene, whose protein product is one of the six parts of the intraflagellar transport complex A.
The syndrome's key characteristics are:
phal...
Article
Multiple endocrine neoplasia type IIb
Multiple endocrine neoplasia (MEN) type IIb, also known as MEN type 3 (MEN3) 3 or mucosal neuroma syndrome 2, accounts for only 5% cases of MEN2 and is characterized by:
pheochromocytoma(s): in 50% of patients, often bilateral, and can be extra-adrenal
medullary thyroid cancer: 100% of patient...
Article
Androgen insensitivity syndrome
Androgen insensitivity syndrome (AIS), also known as testicular feminization syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings.
Epidemiology
The incidence may vary depending on whether it is co...
Article
WAGR syndrome
WAGR syndrome or complex stands for:
Wilms tumors (greatly increased risk)
aniridia
genitourinary anomalies
intellectual disability
Pathology
Genetics
Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.
Article
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder.
Epidemiology
The exact prevalence is unknown.
Clinical presentation
The cardinal features of HANAC syndrome are helpfully described in the name of...
Article
Ovarian vein syndrome
Ovarian vein syndrome is a relatively rare condition where a dilated ovarian vein (ovarian venous varix) causes notching, dilatation, or obstruction of the ureter. This is usually secondary to varicosities of the ovarian vein or ovarian vein thrombosis and occurs at the point where the ovarian v...
Article
Young syndrome
Young syndrome shares similar clinical and radiological findings to primary ciliary dyskinesia and cystic fibrosis, however, the underlying pathogenesis is yet to be fully elucidated. Obstructive azoospermia at the level of the epididymis is thought to be the cause of infertility. The commonly r...
Article
Bartter syndrome
Bartter syndrome is a rare inherited renal disorder.
Pathology
Bartter syndrome is characterized by hyperplasia of the juxtaglomerular cells along with:
hypokalemia
metabolic alkalosis
hypotension/normotension
elevated plasma renin
elevated aldosterone
antenatal polyhydramnios
Classific...
Article
Branchio-oto-renal dysplasia
Branchio-oto-renal (BOR) dysplasia, syndrome, or spectrum disorder is a rare syndromic disorder characterized by cervical branchial apparatus anomalies, ear malformations, and renal anomalies. If there are no renal anomalies, then it is more likely to be branchiootic dysplasia.
Pathology
When ...
Article
Milk-alkali syndrome
Milk-alkali syndrome is the combination of:
hypercalcemia
renal failure
metabolic alkalosis
It is due to a large amount of calcium and alkali being ingested (e.g. milk and antacids for peptic ulcer disease treatment or calcium carbonate for osteoporosis). It is a cause of medullary nephrocal...
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