Tag: genetic

Different Types of Leukoencephalopathy

Cynthia A. Lockley on
  • Arteriolosclerotic Leucoencephalopathy in the Elderly (ALE) from the National Library of Medicine (NIH). ALE is characterized by white matter lesions associated with atherosclerosis and arteriolosclerosis. Mild lesions are focal and probably represent early status cribosus or incomplete lacunar infarcts.

    ALE is common in old age and is probably the cause of leuko-araiosis in most CT scans in the elderly. ALE may be asymptomatic. The severity of white matter changes may not be related to the severity of neurological deficit. Multiple lacunar infarcts or associated degenerative diseases (i.e., Alzheimer's disease) may be the main cause of dementia in patients with ALE.

  • "Leukoencephalopathy in Patients With Ischemic Stroke" by J. Bogousslavsky, M.D., F. Regli, M.D., and A. Uske, M.D. Stroke 1987 Sep-Oct;18(5):896-899. DOI: 10.1161/01.str.18.5.896. PMID: 3629648.
    Studies suggest that hypertension may be more strongly associated with leukoencephalopathy than with deep infarcts. In acute stroke patients, leukoencephalopathy on CT should not be considered a fortuitous finding. Published in the journal of the American Heart Association / American Stroke Association (AHA/ASA).
  • Leukoencephalopathy with Vanishing White Matter from the National Library of Medicine's MedLinePlus. Leukoencephalopathy with vanishing white matter is a genetic progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects nerves.
  • "Progressive multifocal leucoencephalopathy in an immunocompetent patient with favourable outcome. A case report." by Halvor Naess, Solveig Glad, Anette Storstein, Christine H Rinaldo, Sverre J Mørk, Kjell-Morten Myhr & Hans Hirsch . BMC Neurology, 18May2010.

Williams Syndrome

Cynthia A Lockley on

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares). Affected individuals may also have unusually short eyelid folds (palpebral fissures), flared eyebrows, a small lower jaw (mandible), and prominent ears. Dental abnormalities may also occur including abnormally small, underdeveloped teeth (hypodontia) with small, slender roots.

Williams syndrome may also be associated with heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile hypercalcemia), musculoskeletal defects, and/or other abnormalities.

"Williams Syndrome" report from the National Organization for Rare Disorders (NORD)

References

For More Information

Learn more about genetics on our Genetic Disorders page.

Synonyms of Williams Syndrome

  • Beuren Syndrome
  • Early Hypercalcemia Syndrome with Elfin Facies
  • Elfin Facies with Hypercalcemia
  • Hypercalcemia-Supravalvar Aortic Stenosis
  • WBS
  • Williams-Beuren Syndrome
  • WMS