Leukodystrophy Symptoms & Diagnosis

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