Leukodystrophy

A group of very rare, possibly fatal disorders caused by genetic defects causing progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty cover that acts as an insulator around the nerve fibers.  There are more than 30 types of leukodystrophies, including Canavan disease, which is more common in Ashkenazi Jews (1 in 4 is a carrier), Krabbe disease, which is more common in people with Sweedish ancestry,  x-linked adrenoleukodystrophy, Alexander disease, and Pelizaeus Merzbacher disease.  The most common symptom is a gradual decline in an infant or child who previously appeared well.  Progressive loss may appear in skills such as walking or talking. It may affect body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior, as well as causing seizures and irritability.  An enlarged head is common.  There is usually a slowdown in mental and physical development. There is currently no cure.  Treatment focuses on reducing the affect of symptoms and support.  In some cases, there has been some success in slowing the progression of the disease with bone marrow transplants, enzyme replacement therapy, stem cell transplants, dietary management, and Lorenzo’s oil.