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 edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

30 results found
Article

Alport syndrome

Alport syndrome is an X-linked dominant 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: most common ...
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Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS), also known as the testicular feminisation 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 i...
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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 mental retardation renal str...
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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  elevate aldosterone antenatal polyhydramnios Classifi...
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Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé (BHD) syndrome or folliculin gene-associated syndrome is a genetic multisystemic disease mainly characterized by: multiple lung cysts and secondary spontaneous pneumothoraces multiple bilateral renal tumors (particularly chromophobe renal cell cancer and oncocytoma) cutaneous m...
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Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses. Epidemiology More than 80 cases have been reported in the global literature since its f...
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Conn syndrome

Conn syndrome, also known as primary hyperaldosteronism, is a condition of excess of aldosterone production and occurs secondary to adrenal cortical adenoma, bilateral adrenal hyperplasia, or rarely, adrenal carcinoma. Differentiation between the causes is required to avoid unnecessary surgery. ...
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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...
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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
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...
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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

Hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast ca...
Article

Herlyn-Werner-Wunderlich syndrome

Herlyn-Werner-Wunderlich (HWW) syndrome, is a rare anomaly characterized by Müllerian duct anomalies (MDA) associated with mesonephric duct anomalies 3.  This entity is also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA). It is not to be confused with the Wunderlich syndro...
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HIV-associated nephropathy

HIV-associated nephropathy (HIVAN) is commonly seen in patients with HIV/AIDS and leads to end-stage renal disease (ESRD). The diagnosis is not imaging-based and must be confirmed by renal biopsy. Epidemiology HIVAN is seen in patients at advanced stages of HIV and AIDS, but it can also be see...
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

McCune-Albright syndrome

McCune-Albright syndrome (MAS) is a genetic disorder characterized by the association of: endocrinopathy: precocious puberty polyostotic fibrous dysplasia: more severe than in sporadic cases cutaneous pigmentation: coast of Maine 'cafe au lait' spots Clinical presentation Presentation is va...
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...
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

Nephrotic syndrome

Nephrotic syndrome results from loss of plasma proteins in the urine and characterized by hypoalbuminemia, hyperalbuminuria, hyperlipidemia, and edema. It may be caused by primary (idiopathic) renal disease or by a variety of secondary causes. Clinical presentation Patients present with marked...
Article

Nutcracker syndrome

Nutcracker syndrome is a vascular compression disorder that refers to the compression of the left renal vein most commonly between the superior mesenteric artery (SMA) and aorta, although other variations can exist 1. This can lead to renal venous hypertension, resulting in rupture of thin-walle...
Article

Ovarian vein syndrome

Ovarian vein syndrome is a relatively rare condition where a dilated ovarian vein causes notching, dilatation, or obstruction of the ureter. This is usually secondary to varicoses of the ovarian vein or ovarian vein thrombosis and occurs at the point where the ovarian vein crosses the ureter.
Article

Pelvic congestion syndrome

Pelvic congestion syndrome (some prefer pelvic venous insufficiency 9) is a condition that results from retrograde flow through incompetent valves in ovarian veins. It is a commonly missed and potentially-treatable cause of chronic abdominopelvic pain.  Epidemiology It tends to be more common ...
Article

Renal cysts and diabetes syndrome

Renal cysts and diabetes syndrome (RCAD), also known as maturity-onset diabetes of the young, type 5 (MODY5), refers to the combination of renal cortical cysts and diabetes mellitus in patients with mutations in the HNF1B gene. When renal cysts are associated with these mutations without disturb...
Article

Spigelian-cryptorchidism syndrome

Spigelian-cryptorchidism syndrome is the association of Spigelian hernias and cryptorchidism in children.  Pathology It is reported that ~50% (range 28-75%) range of pediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2.  Along with Spigelian hernia and cryptorchi...
Article

Von Hippel-Lindau disease

Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-50,...
Article

WAGR syndrome

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

Wunderlich syndrome

Wunderlich syndrome is a rare condition, in which spontaneous nontraumatic renal hemorrhage occurs into the subcapsular and perirenal spaces 2. Clinical presentation Wunderlich syndrome is clinically characterized by Lenk's triad: acute flank pain flank mass hypovolemic shock Pathology Et...
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

Zinner syndrome

Zinner syndrome is a triad of mesonephric (Wolffian) duct anomalies comprising unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1. Clinical presentation Patients are typically diagnosed during the 3rd or 4th decade of life and often present with per...

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