Batten's Disease

Batten disease is an autosomal recessive disorder; that is a genetic disease inherited equally from two parents. It is rare, affecting only about three in one hundred thousand children, but is more common in the northern European races, the Finns, the Swedes, Newfoundland and Canada. It is a devastating disease that because of its genetic basis runs in families. Batten disease is the most common of a group of diseases known as NCL's (neuronal ceroid lipofusconoses), and is named after the physician who first identified it in 1903.

The symptoms of Batten disease are due to a build up of substances called lipofuscins or lipopigments in the body's tissues. Lipopigments are a mixture of fats and proteins that build up throughout the body. These build ups are found in the eyes, brain, skin, muscle and other areas of the body. When seen under the microscope under ultraviolet light they form into distinctive half moon and fingerprint shapes that glow with a greenish yellow colour.

The areas of these build ups define the symptoms that are seen. Usually the first signs are visual disturbances that may be picked up on an eye examination. These are noticed between the ages of five and ten. If the primary area of build up has been the brain then seizures can be the first symptom. Early changes may be more minor, and not commented on initially, they include personality changes, clumsiness and slow learning.

Over time the symptoms progress and worsen until children become blind, bedridden and mentally disturbed. Eventually the disease is fatal, and life expectancy is not much further than the late teens and early twenties.

Diagnosis will be made on the basis of testing by a neurologist following the initial symptoms. The devastating diagnosis must be made carefully, and extensive testing including skin sampling, brain and eye scans, urine and blood sampling, enzyme analysis and DNA testing. As it is a genetic disease family history is important.