Batten disease

Definition

Batten disease is a disorder of the nervous system that begins in childhood. Symptoms of the disorder include mental impairment, seizures , and loss of sight and motor skills.

Description

Batten disease was named after the British pediatrician who first described it in 1903. The disease is characterized by an abnormal buildup of lipopigments—substances made up of fats and proteins—in bubble-like compartments within cells. The compartments, called lysosomes, normally take in and break down waste products and complex molecules for the cell. In Batten disease, this process is disrupted, and the lipopigments accumulate. This breakdown is genetic. It is marked by vision failure and the loss of intellect and neurological functions, which begin in early childhood.

Batten disease is a form of a family of progressive neurological disorders known as neuronal ceroid lipofuscinoses

(or NCLs). The disease is also known as Spielmeyer-Vogt-Sjögren-Batten disease, or juvenile NCL. There are three other disorders in the NCL family: Jansky-Bielchowsky disease, late infantile neuronal ceroid lipofuscinosis, and Kufs disease (a rare adult form of NCL). Although these disorders are often collectively referred to as Batten disease, Batten disease is a single disorder.

Demographics

Batten disease is relatively rare, occurring in two to four of every 100,000 births in the United States. NCLs appear to be more common in children living in Northern Europe and Newfoundland, Canada.

Causes and symptoms

Batten disease is an autosomal recessive disorder. This means that it occurs when a child receives one copy of the abnormal gene from each parent. Batten disease results from abnormalities in gene CLN3. This specific gene was identified by researchers in 1995.

Individuals with only one abnormal gene are known as carriers; they do not develop the disease but can pass the gene on to their own children. When both parents carry one abnormal gene, their children have a one in four chance of developing Batten disease. Early symptoms of Batten disease include vision difficulties and seizures. There may also be personality and behavioral changes, slow learning, clumsiness, or stumbling. These signs typically appear between ages five and eight. Over time, the children experience mental impairment, worsening seizures, and the complete loss of vision and motor skills.

Batten disease, like other childhood forms of NCL, may first be suspected during an eye exam that displays a loss of certain cells. Because such cell loss can occur in other eye diseases, however, the disorder cannot be diagnosed by this sign alone. An eye specialist who suspects Batten disease may refer the child to a neurologist , who will analyze the medical history and information from various laboratory tests.

Diagnosis

Diagnostic tests used for Batten disease and other NCLs include:

• blood or urine tests that detect abnormalities that may indicate Batten disease
• skin or tissue sampling, which can detect the buildup of lipopigments in cells
• electroencephalogram, which displays electrical activity within the brain that suggests a person has seizures
• electrical studies of the eyes, which further detect various eye problems common in childhood NCLs
• brain scans, which spot changes in the brain's appearance

Treatment team

Patients suspected of having Batten disease will be diagnosed and then treated by an ophthalmologist and neurologist. Physical and occupational therapists will be consulted to help the patient maintain optimal functioning.

Treatment

There is no known treatment to prevent or reverse the symptoms of Batten disease or other NCLs. Anticonvulsant drugs are often prescribed to reduce or control seizures. Other medicines may be prescribed to manage other symptoms associated with the disorder. Physical and occupation therapy may also help people retain function for a longer period of time. Scientists' recent discovery of the genes responsible for NCLs may help lead to effective treatments.

There have been reports of the slowing of the disease among children who were given vitamins C and E and diets low in vitamin A. However, the fatal outcome of the disease remained the same.

Prognosis

People with Batten disease may become blind, confined to bed, and unable to communicate. Batten disease is typically fatal by the late teens or 20s. Some people with the disorder, however, live into their 30s.

Resources

ORGANIZATIONS

Batten Disease Support and Research Association. 2600 Parsons Ave., Columbus, OH 43207. (800) 448-4570. <http://www.bdsra.org>.

Children's Brain Disease Foundation. 350 Parnassus Ave., Suite 900, San Francisco, CA 94117. (415) 566-5402.

Children's Craniofacial Association. PO Box 280297, Dallas, TX 75243-4522. (972) 994-9902 or (800) 535-3643. contact [email protected]. <http://www.ccakids.com>.

JNCL Research Fund. PO Box 766, Mundelein, IL 60060.<http://www.jnclresearch.org>.

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. <http://www.rarediseases.org>.

WEBSITES

"Batten Disease Fact Sheet." (June 2000). National Institute of Neurological Disorders and Stroke. <http://www.ninds.nih.gov/health_and_medical/pubs/batten_disease.htm>. "

Gene for Last Major Form of Batten Disease Discovered." (September 18, 1997). National Institute of Diabetes and Digestive and Kidney Disorders. <http://www.niddk.nih.gov/welcome/releases/9_18_97.htm>.

Michelle lee Brandt

Rosalyn Carson-Dewitt, MD