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Batten Disease

(Neuronal Ceroid Lipofuscinosis)
  • Definition

    Batten disease is the most common form of a group of rare disorders known as neuronal ceroid lipofuscinoses (NCLs). Batten disease is an inherited genetic disorder that causes a build-up of lipopigments in the body’s tissues. Batten disease refers to a juvenile form of NCL, but the other forms of NCL can also be referred to as Batten disease. The forms of NCL include:
    • Infantile NCL
    • Late infantile NCL
    • Juvenile NCL
    • Adult NCL
  • Causes

    Batten disease is caused by abnormalities in genes that are involved with the production and use of certain bodily proteins. The disease results in a build up of fats and proteins called lipopigments in the cells of the brain, eyes, skin, and other tissues.
    Researchers have made progress in identifying the defective enzymes and mutated genes that underlie these disorders, but it is not yet known exactly how the gene mutations cause this build up of lipopigments.
  • Risk Factors

    Since Batten disease is an inherited condition, people at risk include:
    • Children of parents with Batten disease
    • Children of parents not afflicted with Batten disease, but who carry the abnormal genes that cause the disease
  • Symptoms

    Batten disease may cause:
    • Vision loss and blindness
    • Muscle incoordination
    • Intellectual disability or decreasing mental function after a period of normal development
    • Psychological problems, such as depression or anxiety
    • Seizures
    • Muscle spasms
    • Deterioration of muscle tone
    • Movement problems
    Symptoms of Batten disease are similar in each type of the disease. However, the time of appearance, severity, and rate of progression of symptoms can vary depending on the type of the disease. For example:
    Infantile NCL (Santavuori-Haltia disease)—Symptoms begin to appear between 6 months-2 years of age and progress rapidly. Children with this type generally live until age 5, though some survive in a vegetative state a few years longer.
    Late infantile NCL (Jansky-Bielschowsky disease)—Symptoms begin to appear between 2-4 years of age and progress rapidly. Children with this type usually live until ages 8-12.
    Juvenile NCL (Spielmeyer-Vogt-Sjogren-Batten disease)—Symptoms begin to appear between 5-8 years of age and progress less rapidly. Those with this type usually live until their late teens or early 20s; and in some cases, into their 30s.
    Adult NCL (Kufs disease or Party's disease)—Symptoms usually begin to appear before 40 years of age. Symptoms progress slowly and are usually milder. However, this form of the disease usually does shorten a person's life span.
  • Diagnosis

    The doctor will ask about any symptoms, and medical and family history. In most cases, the first symptoms involve vision problems. An eye exam may lead to the initial diagnosis.
    Other tests may include:
    • Blood tests—Certain substances in the blood may be present or elevated. Blood tests can also detect physical changes in white blood cells.
    • Genetic tests—To assess chromosomal and molecular abnormalities associated with Batten disease.
    • Urine tests—Certain substances in the urine may be elevated.
    • Skin biopsy—Abnormal deposits can be found in skin cells and sweat glands.
    Skin Biopsy
    Skin proceedure
    Copyright © Nucleus Medical Media, Inc.
    Imaging tests assess internal structures (like the brain) for abnormalities. These tests may include:
    An electroencephalogram (EEG) evaluates the electrical activity of the brain.
    MRI Scan
    MRI of the Brain
    Copyright © Nucleus Medical Media, Inc.
  • Treatment

    There is no known treatment that will stop the progression or effects of Batten disease. Treatment will depend on the types of symptoms present. The goal is to ease symptoms. Options include:
    Medications
    Examples include:
    • Antiseizure medications
    • Antipsychotics to control seizures, depression, anxiety, and muscle spasms
    • Medications to control other symptoms, such as gastroesophageal reflux disease (GERD)
    • Antibiotics to control bacterial infections, such as pneumonia
    Nutritional Support
    If there is a high risk of malnutrition or dehydration, a nasogastric tube can be used. It is a long, narrow tube that is placed through the nose and into the stomach. Liquid nutrition, water, and medications can be delivered through the tube.
    Other Therapies
    Other supportive treatments may include:
    • Physical therapy to maintain as much movement as possible
    • Occupational therapy to assist in everyday tasks and self-care
    • Dietary changes which may include vitamin C and E supplements or a diet low in vitamin A
  • Prevention

    There is no known way to prevent Batten disease. If you have Batten disease or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
  • 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: http://www.ninds.nih.gov/disorders/batten/detail%5Fbatten.htm. Updated September 1, 2015. Accessed March 21, 2016.

    Batten’s disease. Gene reviews. Updated August 1, 2013. Accessed March 24, 2016.

    Home nasogastric tube feeding. University of Pittsburgh Medical Center website. Available at: http://www.upmc.com/patients-visitors/education/nutrition/Pages/home-nasogastric-tube-feeding.aspx. Accessed March 21, 2016.

    How are genetic conditions diagnosed? Genetics Home Reference website. Available at: https://ghr.nlm.nih.gov/handbook/consult/diagnosis. Updated March 14, 2016. Accessed March 21, 2016.

    Sondhi D, Hackett NR, Apblett RL, Kaminsky SM, Pergolizzi RG, Crystal RG. Feasibility of gene therapy for late neuronal ceroid lipofuscinosis. Arch Neurol. 2001;58(11):1793-1798.

    Taupin P. HuCNS-SC (StemCells). Curr Opin Mol Ther. 2006;8(2):156-163.

    What is Batten disease? Batten Disease Support and Research Association website. Available at: http://bdsra.org/what-is-batten-disease. Accessed March 21, 2016.

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