Batten disease is the common name of a group of rare nervous system problems known as neuronal ceroid lipofuscinoses (NCLs). It causes a buildup of fats and proteins in the brain, eyes, skin, and other tissues.
Batten disease is caused by problems with the genes that make and use proteins.
This problem is more common in children of parents who have Batten disease or carry the genes that cause it.
The problems a person has depend on the form and severity of NCL.
Common problems are:
You will be asked about your symptoms and health history. You may also be asked about your family history. A physical exam will be done. Most people have problems in vision. An eye exam can diagnose the disease.
Blood and urine tests may be done to look for signs of Batten disease. Genetic tests will be done.
A skin biopsy may also be done to look for specific deposits in skin cells and sweat glands.
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Images may be taken of structures in the body to look for problems. This can be done with:
The electrical activity of the brain may be tested. This can be done with an electroencephalogram (EEG).
There is no known way to treat Batten disease. It will get worse over time. The goal is to ease symptoms.
Medicine is often given to manage the problems a person is having. Some choices are:
Some people may need help getting nutrition. A tube may be placed in the nose to deliver nutrition, water, and medicines to the stomach.
Other therapies may be:
There are no known ways to prevent Batten disease.
National Institute of Neurological Disorders and Stroke
NIH Office of Rare Diseases Research
About Kids Health—The Hospital for Sick Children
Batten Disease Support and Research Association
Batten disease fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Batten-Disease-Fact-Sheet. Accessed September 18, 2020.
What is Batten disease? Batten Disease Support and Research Association website. Available at: http://bdsra.org/what-is-batten-disease. Accessed September 18, 2020.
Last reviewed March 2020 by EBSCO Medical Review Board Kari Kassir, MD Last Updated: 4/7/2021