Leukoencephalopathy

Definition

Definition of Leukoencephalopathy
Leukoencephalopathy with vanishing white matter is a 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.

Symptoms

Symptoms of Leukoencephalopathy
In most cases, people with leukoencephalopathy with vanishing white matter show no signs or symptoms of the disorder at birth. Affected children may have slightly delayed development of motor skills such as crawling or walking. During early childhood, most affected individuals begin to develop motor symptoms, including abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). There may also be some deterioration of mental functioning, but this is not usually as pronounced as the motor symptoms. Some affected females may have abnormal development of the ovaries (ovarian dysgenesis). Specific changes in the brain as seen using magnetic resonance imaging (MRI) are characteristic of leukoencephalopathy with vanishing white matter, and may be visible before the onset of symptoms.

Causes

Causes of Leukoencephalopathy
While childhood onset is the most common form of leukoencephalopathy with vanishing white matter, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood, when behavioral or psychiatric problems may be the first signs of the disease. Some females with milder forms of leukoencephalopathy with vanishing white matter who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

Progression of leukoencephalopathy with vanishing white matter is generally uneven, with periods of relative stability interrupted by episodes of rapid decline. People with this disorder are particularly vulnerable to stresses such as infection, mild head trauma or other injury, or even extreme fright. These stresses may trigger the first symptoms of the condition or worsen existing symptoms, and can cause affected individuals to become lethargic or comatose.

Diagnosis

Diagnosis of Leukoencephalopathy
Consult with your doctor.

Treatment

Treatment of Leukoencephalopathy
Unfortunately, there is no cure for any form of leukoencephalopathy, and no treatments approved. Although some medications have shown some effect against the deterioration involved in this disease, those identified have been highly toxic themselves, and none so far have been effective enough to justify use. The treatment of people with this disorder, therefore, tends to concentrate on alleviating discomfort.

Prognosis

Prognosis of Leukoencephalopathy
Consult with your doctor.

Prevention

Prevention of Leukoencephalopathy
Since there are no effective treatments, prevention must be emphasized. As the risks of certain treatment choices have become more defined, physicians must pursue careful treatment planning to produce optimal chance of tumor eradication while avoiding increased risk of the onset of a fatal and incurable side effect. This is especially true in children. The cases observed have largely been in children, which implies that the developing brain is at higher risk of developing treatment-associated leukoencephalopathy.