Batten Disease

What causes Batten disease?
How is Batten disease diagnosed?
How is Batten disease controlled?

Batten disease is an inherited disorder that leads to a progressive deterioration of the brain and nervous system, and inevitably leads to an early death. Because vision loss is one of the earliest signs of the disease, it is often first suspected during an eye exam.

Although the term Batten disease has historically been used to describe the juvenile form of a disorder called neuronal ceroid lipofuscinosis (NCL), it is now commonly used to describe all forms of NCL, including those that occur after childhood. The disease was named after the British pediatrician who first described it in 1903. It is not contagious and, at present, there is no cure or treatment.

Classified by age, there are four different forms of Batten disease, each genetically different:

• infantile, which begins between the ages of 6 months and 2 years
• late infantile, which begins between the ages of 2 and 4
• juvenile, which starts between 5 and 9 years
• adult, which generally occurs before the age of 40

The infantile forms of the disease progress most rapidly, usually resulting in death by mid-childhood, while those with the juvenile form may live into their 20s. Adult NCL causes milder symptoms, but life expectancy is shortened.

What causes Batten disease?

The development of Batten disease is connected to a buildup of lipopigments in body tissues, including cells of the brain, the eye, the skin, and muscles. Although scientists are uncertain about why this buildup occurs, it's suspected that there is a shortage of enzymes that would normally break down the lipopigments or a glitch in the cells causing them to produce too much of the substances. Scientists have been unable to determine why the excess lipopigments cause damage to the nerve cells.

All types of Batten disease are inherited, although different forms of the disease are caused by different gene combinations. The childhood forms occur when each parent carries a recessive gene, meaning that each pregnancy has a 1 in 4 chance of containing the gene combination necessary for developing the disease. Those who carry just one defective gene are known as carriers, meaning they do not develop the disease but they can pass it along to their children. Adult forms of Batten disease may be either recessive, as in the childhood forms, or (rarely) autosomal dominant, meaning that any person who inherits the single gene will develop the disease.

How is Batten disease diagnosed?

Batten disease is often first suspected by an ophthalmologist because, except in the adult form, vision loss is one of the earliest symptoms. The childhood forms of Batten disease all involve the loss of cells within the eye, which can be detected by an eye doctor. Because this cell loss can also occur with other diseases, however, the child is usually referred to a neurologist for final diagnosis. Further testing may include blood and urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans. The imaging technique most commonly used is computed tomography (CT), which uses a computer and x-rays to create a picture of the brain's structure. This scan can determine whether there may be decaying areas of the brain.

The first symptoms in the childhood forms usually occur between the ages of 5 and 10 and, in addition to vision loss, may include seizures, subtle personality and behavior changes, clumsiness, and slow learning ability.

How is Batten disease controlled?

There is no specific treatment for Batten disease at this time, although some symptoms can be controlled. Seizures, for instance, can sometimes be reduced with anticonvulsant drugs. There is some evidence that treatment with vitamins C and E, along with diets low in vitamin A, may slow the development of the disease in children. These treatments do not, however, prevent the fatal outcome of the disease.

Physical and occupational therapy are also used to help patients retain function as long as possible. Because the disease produces extreme disability and dementia, patients and families often find support groups helpful in providing assistance and encouragement.

To find a support group, see Eye Health Organizations in Resource Center.