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This rare genetic condition is one of a group of disorders termed the leukodystrophies in which myelin (the sheath surrounding nerve cell axons) is damaged. The condition is associated as well with severe damage both to the brain and peripheral nervous system as well as to the adrenal glands. Associated problems can include seizures, movement problems, and loss of function in many areas. Although onset in infancy and adulthood is possible, the onset is usually during childhood, and there may be some confusion early on with other conditions like childhood disintegrative disorder. An adolescent onset type is observed, frequently in males, with more prominent involvement of the spinal cord.
The onset of the condition can be characterized by visual or auditory problems, motor and motor coordination issues, seizures, and increased behavioral difficulties. Characteristic laboratory findings and MRI findings are...