Definition

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.

Causes

Batten disease is caused by problems with the genes that make and use proteins.

Risk Factors

This problem is more common in children of parents who have Batten disease or carry the genes that cause it.

Symptoms

The problems a person has depend on the form and severity of NCL.

Common problems are:

  • Eyesight problems
  • Seizures
  • Developmental delay with a later loss of learned skills
  • Changes in memory, personality, and thinking
  • Movement problems
  • Speech problems

Diagnosis

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.

Skin Biopsy
Skin proceedure

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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).

Treatment

There is no known way to treat Batten disease. It will get worse over time. The goal is to ease symptoms.

Medications

Medicine is often given to manage the problems a person is having. Some choices are:

  • Antiseizure medicine
  • Antipsychotic medicine to control seizures, depression, anxiety, and muscle spasms
  • Antibiotics to control bacterial infections, such as pneumonia
  • Medicines to control other symptoms, such as gastroesophageal reflux disease (GERD)

Nutritional Support

Some people may need help getting nutrition. A tube may be placed in the nose to deliver nutrition, water, and medicines to the stomach.

Therapy

Other therapies may be:

  • Physical therapy to help with movement
  • Occupational therapy to help with daily tasks and self-care
  • Dietary changes, such as supplements

Prevention

There are no known ways to prevent Batten disease.

RESOURCES:

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

NIH Office of Rare Diseases Research
https://rarediseases.info.nih.gov

CANADIAN RESOURCES:

About Kids Health—The Hospital for Sick Children
http://www.aboutkidshealth.ca

Batten Disease Support and Research Association
http://bdsra.org

REFERENCES:

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