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.

23 results found
Article

Alport syndrome

Alport syndrome is an X-linked recessive disease characterised by:  haematuria sensory neural hearing loss: typically high frequency 2 ocular abnormalities  anterior lenticonus: most common ocular abnormality; may result in cataracts perimacular pigmentary changes flecks around the fovea 2...
Article

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...
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 mental retardation renal str...
Article

Bartter syndrome

Bartter syndrome is a rare inherited renal disorder. Pathology Bartter syndrome is characterised by hyperplasia of the juxtaglomerular cells along with: hypokalemia metabolic alkalosis hypotension or normotension  elevated plasma renin  elevate aldosterone antenatal polyhydramnios Class...
Article

Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé (BHD) syndrome is a genetic multisystemic disease mainly characterised by: multiple lung cysts and secondary spontaneous pneumothoraces multiple bilateral renal tumours (particularly chromophobe renal cell cancer and oncocytoma) cutaneous manifestations (angiofibromas, perifoll...
Article

Conn syndrome

Conn syndrome (or primary hyperalderosteronism) 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.  Clinica...
Article

Haemolytic uraemic syndrome

Haemolytic uraemic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterised by the triad of renal failure, haemolytic anaemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.  There are two forms of this syn...
Article

Hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian cancer (HBOC) syndrome is caused by 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 canc...
Article

Herlyn-Werner-Wunderlich syndrome

Herlyn-Werner-Wunderlich (HWW) syndrome, is a rare anomaly characterised 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...
Article

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

McCune-Albright syndrome

McCune-Albright syndrome (MAS) is a genetic disorder characterised 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: hypercalcaemia renal failure metabolic alkalosis It is due to the large amounts 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 nephr...
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 characterised 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 (NS) results from loss of plasma proteins in the urine and characterised by hypoalbuminemia, hyperalbuminuria, hyperlipidemia, and oedema. It may be caused by primary (idiopathic) renal disease or by a variety of secondary causes. Clinical presentation Patients present with ...
Article

Nutcracker syndrome

Nutcracker syndrome is a vascular compression disorder and refers to the compression of the left renal vein between the superior mesenteric artery (SMA) and aorta. This can lead to renal venous hypertension, resulting in rupture of thin-walled veins into the collecting system with resultant haem...
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 is a condition that results from retrograde flow through incompetent valves in ovarian veins. It is one of commonly missed and potentially treatable cause of chronic abdominal or pelvic pain.  Epidemiology It tends to be more common in multiparous, premenopausal wome...
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 paediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2.  Along with Spigelian hernia and cryptorch...
Article

Von Hippel-Lindau disease

Von Hippel-Lindau (vHL) disease is characterised by the development of numerous benign and malignant tumours in different organs (at least 40 types 1) due to mutations in the VHL tumour suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-5...
Article

Waterhouse-Friderichsen syndrome

Waterhouse-Friderichsen syndrome is characterised by adrenal insufficiency that results from atraumatic adrenal haemorrhage in consequence of septicaemia.  Pathology Waterhouse-Friderichsen syndrome is due to septicaemia and common infective agents include 5: meningococcus: traditionally desc...
Article

Wunderlich syndrome

Wunderlich syndrome is a rare condition, in which spontaneous nontraumatic renal haemorrhage occurs into the subcapsular and perirenal spaces 2. Clinical features Wunderlich syndrome is clinically characterized by Lenk's triad acute flank pain flank mass hypovolaemic shock Pathology Aetio...
Article

Young syndrome

Young syndrome shares similar clinical and radiological findings to primary ciliary dyskinesia and cystic fibrosis, however the underlying pathogenesis yet to be fully elucidated. Obstructive azoopsermia at the level of the epididymis is thought to be the cause of infertility. The commonly refer...
Article

Zinner syndrome

Zinner syndrome is a triad of Wolffian duct anomalies that include unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1. Clinical presentation Patients are typically diagnosed at 3rd or 4th decade of life and often present with perineal pain, recurren...

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.