Leukodystrophy

Definition

Leukodystrophy is a rare disease. It causes a break down of a part of the brain called the myelin, or “white matter". Myelin protects the part of the nerve that sends signals from the brain to the rest of the body. The break down of myelin makes it difficult for the brain to send signals to the body.

Types of leukodystrophies include:

• Metachromatic leukodystrophy
• Krabbé disease
• Adrenoleukodystrophy
• Adrenomyelopathy
• Pelizaeus-Merzbacher disease
• Canavan disease
• Childhood ataxia with central nervous system hypomyelination (CACH, also called vanishing white matter disease)
• Alexander disease
• Refsum disease
• Cerebrotendinous xanthomatosis

Most leukodystrophies begin in infancy or childhood. However, there are several types that may not begin until adolescence or early adulthood.

Neuronal Axon With Myelin Sheath

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Causes

Leukodystrophy is caused by a genetic defect. This defect impairs the growth or development of the myelin. Each type of leukodystrophy is the result of a specific genetic defect. Most leukodystrophies are passed from parent to child though some may develop spontaneously.

Risk Factors

A family history of leukodystrophy may increase your chance of leukodystrophy.

Symptoms

Symptoms of leukodystrophy may include:

• Gradual decline of the health of an infant or child who previously appeared well
• Loss or increase in muscle tone
• Change in movements
• Seizures
• Abnormal eye movements
• Change in walking pattern
• Loss of speech
• Loss of the ability to eat
• Loss of vision
• Loss of hearing
• Change in behavior
• Slowdown of mental and physical development

Some leukodystrophies may involve other organ systems which can cause:

• Blindness
• Heart disease
• Enlargement of the liver and spleen
• Skeletal abnormalities, such as short stature, coarse facial appearance, and joint stiffness
• Respiratory disease leading to breathing problems
• Bronzing of the skin
• Formation of cholesterol nodules on tendons

Diagnosis

Your doctor will ask about your symptoms and medical history. A physical exam will be done. Images of the brain may be taken. Your doctor may order a magnetic resonance imaging (MRI) to help diagnosis leukodystrophy. Other tests include:

• Urine analysis
• Nerve biopsy
• Blood test
• Biopsy —removal of a sample of skin (or other) tissue
• CT scan —a type of x-ray that uses a computer to make pictures of structures inside the skull
• Lumbar puncture —a procedure to collect cerebrospinal fluid
• Nerve conduction testing —a test that measures the speed and degree of electrical activity in a nerve to determine if it is functioning normally
• Evoked potential test—a test that measures how well signals are conducted through the nervous system

Treatment

Talk with your doctor about the best treatment plan for you. Treatment options include:

Talk to your doctor to find out what treatments may be right for you.

Prevention

There is no known way to prevent leukodystrophy. For parents who have had a child with leukodystrophy, genetic counseling may be helpful. This counseling will help to determine the chances of having another child with the disease.