Juvenile Batten Disease

Batten disease is a fatal, inherited disorder of the nervous system that typically begins in childhood. Both parents have to have the recessive gene for the disease to manifest. If just one parent has it, then the child could be a carrier.

Early symptoms of this disorder usually appear between the ages of 5 and 10. What Parents or physicians tend to notice is a previously normal child who now begins to develop vision problems or seizures.

Early signs are subtle, taking the form of personality and behaviour changes, slow learning, clumsiness, or stumbling. Over time, children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, Batten disease sufferers become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.

Batten disease is named after the British paediatrician who first described it in 1903. It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses, or NCLs. Although Batten disease originally referred specifically to the juvenile form of NCL (JNCL), the term Batten disease is increasingly used by pediatricians to describe all forms of NCL.

So what is an NCL? Lipofuschin is a natural pigment made in the nerves of the body. In NCLs the pigment doesn’t get removed from the tissue when it should and builds up, damaging the nervous system.  These lipopigments are made up of fats and proteins. Their name comes from the technical word lipo, which is short for "lipid" or fat, and from the term pigment, used because they take on a greenish-yellow color when viewed under an ultraviolet light microscope. The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues.

Batten disease and other forms of NCL are relatively rare, occurring in an estimated 2 to 4 of every 100,000 live births in the United States. These disorders appear to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada. Although NCLs are classified as rare diseases, they often strike more than one person in families that carry the defective genes.

No specific treatment is known that can halt or reverse the symptoms of Batten disease. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. At the same time, physical and occupational therapy may help patients retain function as long as possible.

Some reports have described a slowing of the disease in children with Batten disease who were treated with vitamins C and E and with diets low in vitamin A. However, these treatments did not prevent the fatal outcome of the disease.

Support and encouragement can help patients and families cope with the profound disability and dementia caused by NCLs. Often, support groups enable affected children, adults, and families to share common concerns and experiences.

Meanwhile, scientists pursue medical research that could someday yield an effective treatment.