Syndromes

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Radiology of common and uncommon syndromes:

Budd-Chiari syndrome

refers to the clinical picture that occurs when there is obstruction of the hepatic veins.
The classic acute presentation is with the clinical triad of ascites, hepatomegaly and abdominal pain, although this is non-specific
Budd-Chiari syndrome is rare, but the exact frequency is unknown. In Western populations, the commonest cause is thrombosis. Membranous webs have been increasingly describe in Asian patients as a cause of obstruction. The presentation may be acute or chronic:

  • acute: results from an acute thrombosis of the main hepatic veins or the IVC
  • chronic: the chronic form is related to fibrosis of the intrahepatic veins, presumably related to inflammation

Pathophysiology

The aetiology is mixed and varied. The majority of cases result from thrombosis within the hepatic veins. However, 25% result from external compression that results in obstruction:
  • idiopathic: one third of cases
  • congenital: web in hepatic vein, diaphragm, interruption of the IVC
  • venous thrombosis: secondary to dehydration, septicemia, polycythemia rubra vera, antiphospholipid syndrome, pregnancy and the postpartum state, oral contraceptive pill use, sickle cell disease, thrombocytosis, paroxysmal nocturnal hemoglobinuria
  • injury and/or inflammation: caused by phlebitis, autoimmune disease , trauma, radiation injury, use of immunosuppressive drugs and pyrrolizidine alkaloids
  • liver pathology: fibrosis, haemorrhage, congestion causes of BCS
  • tumour: caused by renal cell carcinoma RCC, hepatocellular ca HCC, adrenal ca., metastasis, leiomyosarcoma of the IVC

Radiographic features CT

  • inhomogeneous mottled liver with delayed enhancement in the periphery of the liver and around the hepatic veins (nutmeg liver)
  • peripheral zones of the liver may appear hypoattenuating because of reversed portal venous blood flow
  • caudate lobe enlargement and increased contrast enhancement compared with the remainder of the liver
  • inability to identify hepatic veins

US

  • gallbladder wall thickening, ascites, patchy liver echo pattern, splenomegaly, hypertrophied caudate lobe, and ascites
  • part of or the entire right hepatic vein with no flow or inappropriately directed flow
  • discontinuity between the main hepatic vein and the IVC
  • reversed flow in hepatic veins and intra and extrahepatic collaterals
  • portal vein changes such as retrograde flow
  • low or no flow in the IVC or balanced bidirectional flow
  • thrombus or tumour within the IVC

Down syndrome or trisomy 21 (usually Down's Syndrome)

  • Defenition: is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, who described it in 1866.
  • The disorder was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959.
  • Clinical: The condition is characterized by a combination of major and minor differences in structure.Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance.

Thoracic outlet syndrome

  • Definition TOS is a term that encompasses three related syndromes that cause pain in the arm, shoulder, and neck:
  • neurogenic TOS (caused by compression of the brachial plexus),
  • vascular TOS (caused by compression of the subclavian artery or vein) and nonspecific or disputed TOS (in which the pain is from unexplained causes).
  • Occasionally, neurogenic TOS and vascular TOS co-exist in the same person.
  • Clinical TOS is caused by compression of the brachial plexus or subclavian vessels as they pass through narrow passageways leading from the base of the neck to the armpit and arm, but there is considerable disagreement about its diagnosis and treatment.
  • Diagnosis
References <a class="external" href="http://radiographics.rsnajnls.org/cgi/content/full/26/6/1735" rel="nofollow" target="_blank">Imaging Assessment of Thoracic Outlet Syndrome</a>

Turner's Syndrome

Definition; Turner's syndrome is the most common sex chromosome abnormality in females. It is characterised with the absence of one X chromosome copy (45 XO), with the missing chromosome most frequently (2/3) being the paternal one. Even though it is relatively common, almost all 45 XO foetuses will spontaneously abort, with 70% lost between 16W and term. Unlike trisomies, there is no correlation with maternal age.

Antenatal ultrasound findings

  • increase in nuchal thickness
  • cystic hygromas
  • coarctation of the aorta (narrows in the area where the ductus arteriosus inserts)
  • bicuspid aortic valve
  • horseshoe kidney ( Congenital anomalies of the kidneys include a group of so-called fusion anomalies, in which both kidneys are fused together in early embryonic life.)
  • mild IUGR (Intrauterine growth restriction refers to a condition in which a fetus is unable to achieve its genetically determined potential size)
Post partum to adulthood findings
  • hypothyroidism ( is an endocrine disorder resulting from deficiency of thyroid hormone. It usually is a primary process in which the thyroid gland produces insufficient amounts of thyroid hormone. It can also be secondary — that is, lack of thyroid hormone secretion due to inadequate secretion of either thyrotropin (ie, thyroid-stimulating hormone [TSH]) from the pituitary gland or thyrotropin-releasing hormone (TRH) from the hypothalamus (secondary or tertiary hypothyroidism).
  • scoliosis
  • inflammatory bowel disease
  • glucose intolerance
  • hypertension
  • short 4th metacarpal
  • Short stature
  • Lymphedema (swelling) of the hands and feet
  • Broad chest (shield chest) and widely-spaced nipples
  • Low hairline
  • Low-set ears
  • Reproductive sterility
  • Rudimentary ovaries gonadal streak (underdeveloped gonadal structures)
  • Amenorrhea, or the absence of a menstrual period
  • Increased weight, obesity
  • Shield shaped thorax of heart
  • Shortened metacarpal IV (of hand)
  • Small fingernails
  • Characteristic facial features
  • Webbed neck from cystic hygroma in infancy
  • Coarctation of the aorta
  • Poor breast development
  • Horseshoe kidney
  • Visual impairments sclera, cornea, glaucoma, etc.
  • Ear infections and hearing loss

Nutcracker syndrome

  • Definition is a compression of the left renal vein between the abdominal aorta (AA) and superior mesenteric artery (SMA)
  • Clinical
  • Diagnosis

Median Arcuate Ligament Syndrome

  • Definition : The median arcuate ligament is a fibrous arch that unites the diaphragmatic crura on either side of the aortic hiatus. The ligament usually passes superior to the origin of the celiac axis. However, in some people, the ligament inserts low and thus crosses the proximal portion of the celiac axis, causing compression and sometimes resulting in abdominal pain. The diagnosis of clinically significant celiac axis compression
  • Clinical : The hallmark of this condition is disabling midepigastric or central abdominal pain that develops 10-15 minutes after eating.The pain gradually increases in intensity, reaches a plateau, and then slowly decreases in intensity several hours after eating. Initially, this pain pattern develops only after large meals, but as the disease progresses, even small meals may be poorly tolerated.Some patients have associated motility disturbances such as diarrhea or constipation, bloating, or vomiting.
  • The pain is poorly localized and described as cramplike or a dull ache. Occasionally, a patient may have constant or intermittent pain that occurs without a clear temporal relationship to eating. Soon, patients associate eating with pain Because none of the usual contrast studies or endoscopies performed in the course of a workup for malignancy are diagnostic, considerable delay in diagnosis typically results.
  • A history of peripheral vascular disease is common. As with other vasculopathies, individuals who smoke predominate in all series.
Diagnosis

Poland's Syndrome

Defenition: Named after Sir Alfred Poland, is a rare birth defect characterized by underdevelopment or unilateral absence pectoralis muscle (but not always) webbing of the fingers (cutaneous syndactyly) of the ipsilateral hand mostly common on the right side of body and found more in males than females.
It is usually considered a unilateral condition.

Clinical

abnormal gastrointestinal tract
Syndromes - wikiRadiographyabsent pectoral muscles
Syndromes - wikiRadiographybrachydactyly (shortness of the fingers)
Syndromes - wikiRadiographydextrocardia
Syndromes - wikiRadiographydiaphragmatic hernia/defect
Syndromes - wikiRadiographyhumerus absent/abnormal
Syndromes - wikiRadiographyliver/biliary tract anomalies
Syndromes - wikiRadiographymaternal diabetes
Syndromes - wikiRadiographyoligodactyly (missing fingers)
Syndromes - wikiRadiographyradius absent/abnormal
Syndromes - wikiRadiographyrhizomelic micromelia
Syndromes - wikiRadiographysyndactyly of fingers (fused together)
Syndromes - wikiRadiographyulna absent/abnormal
Syndromes - wikiRadiographyupper limb asymmetry


Proteus Syndrome

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