What is a Leukodystrophy?

Leukodystrophy means disease of the white matter. The white matter is the area of the brain through which messages are sent. A substance called "myelin" allows messages to move quickly through this area and causes the area to look white in color, which is why it is called white matter.

What causes a Leukodystrophy?

Leukodystrophies can have many causes, some known and some yet to be discovered. Many patients have leukodystrophies for which there are no specific tests to help establish the cause or diagnosis. Genetic leukodystrophies have an incidence of approximately 1 in 7500.

Known causes of leukodystrophy include:

  • Prematurity
  • Infection
  • Trauma
  • Cancer
  • Genetic (such as Metachromatic Leukodystrophy)

What are the symptoms of Leukodystrophy?

Different children can have very different symptoms from their leukodystrophy, and sometimes the disease will not affect people until they are school-age or even young adults.

Children with a leukodystrophy may have problems, including the following:

  • Seizures
  • Vision, hearing, or speech problems
  • Learning disabilities and behavior problems
  • Mental retardation
  • Respiratory problems
  • Bowel and bladder problems
  • Delay in achieving developmental milestones
  • Spasticity or hyper-reflexes

The symptoms of a leukodystrophy may resemble other conditions. Always consult your child's physician for a diagnosis.

How is a Leukodystrophy Diagnosed?

The diagnosis of a leukodystrophy is challenging and requires specialized testing, which can include MRI imaging of the brain, genetic testing, or chemical testing of the blood and/or urine.

Even patients who have a leukodystrophy that has a known cause may not be easy to diagnose with the tests currently available.

Testing can include:

  • Neurological examination (to evaluate reflexes and brain/motor function)
  • Blood tests
  • Magnetic resonance imaging (MRI) - a diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body.
  • Computed tomography scan (also called CAT or CT scan) - a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general x-rays.
  • Genetic studies - diagnostic tests that evaluate for conditions that have a tendency to run in families.
  • Metabolic tests - diagnostic tests that evaluate the absence or lack of a specific enzyme (for example, amino acids, vitamins, carbohydrates) that are necessary to maintain the normal chemical function of the body.

Treatment of Leukodystrophies

There are no cures for most leukodystrophies, and usually a leukodystrophy is a life-long condition. However, a child with a leukodystrophy is best treated with an interdisciplinary team to maximize their health, growth, and development.