The Children’s Brain Diseases Foundation ( 501c3)

Batten Disease (Neuronal Ceroid Lipofuscinosis)

A normal three year old has learned to walk and talk. At first, baby talk that only his parents understand. Today, he is happy, active, curious, looking for adventure and exploring his new world. In a few months, something changes; he starts bumping into and stumbling over invisible obstacles. He has problems with vision. An ophthalmologist may say he has Retinitis Pigmentosa. Suddenly he has a seizure, and truly frightens his parents. Over time, the seizures become more frequent and progressively more severe. The family takes their once promising child to a neurologist Soon there is a diagnosis-Batten disease or Neuronal Ceroid Lipofuscinosis (NCL)-a strange disease with a strange name. Is there a treatment? No. The only treatment is to try to stop the seizures with powerful drugs. Physicians can only treat the symptoms of this relentless and progressively debilitating disease that has taken over their once happy child. Anywhere from months to years after the first symptoms appear, the child dies. The once vibrant brain, once so full of promise, has shrunken severely and is packed full with two characteristic yellow pigments, ceroid and lipofuscin. These yellow pigments now are the tombstones of dead brain cells in what used to be a living and growing brain with a promising future. Will there ever be a treatment to stop this monstrous disease from taking one child after another to an early death?

WHAT IS BATTEN DISEASE

The Batten disorders or neuronal ceroid lipofuscinoses (NCL) are the most common neurogenetic diseases in children. They are a group of fatal neurological diseases that occur as frequently as 1 in 12.500 births. The NCLs are inherited and passed down through some families, All of these disorders are recessively inherited, and may make their presence known only when both parents are carriers, then the chances are 25% that each time a child is conceived; it may be affected with the type of Batten disease common to either family. A carrier of the family specific Batten disease cannot produce an affected child unless both parents are carriers of the same gene. Carriers do not show signs of the disease. Many families are surprised that this disease has passed through many generations silently, and then suddenIv appears unexpectedlv. Parents who ‘:are carriers of two different types of Batten cannot produce an affected child.

There are three major types of Batten disease in children; infantile (CLN I); late infantile (CLN2); and Juvenile (CLN3). At the present time, mutations in at least eight different genes have been shown to cause Batten disease and in five of these the function of the abnormal protein has not yet been identified. Furthermore, there are some families with clinical pathological features of Batten disease who cannot presently be classified with these eight forms. There is also an adult type called Kufs disease. To date, all of the known genes are located in a specific and unique position on different chromosomes. There are medical centers throughout the world that specialize in corroborating the identity of the disease in your family.

All of these disorders primarily affect the brain and often affect the eye, causing blindness.

Seizures are a serious prognostic indicator that must be controlled to prevent additional and progressive losses in brain function. Generally, the affected child shows a gradual deterioration of all body functions, and eventually, requires round the clock nursing care. At the present time, there is no treatment or cure for any form of Batten disease.