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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 gait
- 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 are accompanied by involvement of other organ systems, resulting in:
- 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, and perform a physical exam. She will also perform magnetic resonance imaging (MRI) to produce detailed images of the brain, which can help in the diagnosis of leukodystrophy. Other tests include:
- Urine analysis
- Nerve biopsy
- Blood test
- Biopsy —removal of a sample of skin 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