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:
Developmental delay with a later loss of learned skills
Changes in memory, personality, and thinking
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.
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
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