Batten disease

Definition

The neuronal ceroid lipofuscinoses (NCLS) are a group of rare, inherited neurodegenerative disorders. The term neurodegenerative means "deterioration of nerve cells." NCLS can cause blindness, mental retardation, and early death.

There are three main types of NCLS: Late infantile (Jansky-Bielschowsky), juvenile (Batten disease), and adult (Kufs' or Parry's disease).

Alternative Names

Causes

NCLS disorders involve a build-up of an abnormal material in the brain called lipofuscin. The genetic structure of NCLS diseases are not known, but evidence suggests problems in the ability of brain cells to remove and recycle proteins.

The disorder may be evident at birth, but it is usually diagnosed much later. Children develop muscle incoordination (ataxia), walking problems, visual problems, retardation, and seizures. The younger the person is when the disease appears, the greater the risk for disability and early death.

Lipofuscinoses are inherited as autosomal recessive traits. That means, if both parents carry the trait, each child has:

• One in four chances to have the disease
• Two in four chances to be entirely normal but be a carrier of the trait
• One in four chances to be entirely normal and not be a carrier

Symptoms

• Blindness or visual disturbance
• Ataxia, unsteady gait
• Mental retardation with decreasing mental function
• Dementia (deterioration of ability to think)
• Seizures
• Abnormal increased muscle tone or spasm (myoclonus)
• Movement disorder (choreoathetosis)

Exams and Tests

Tests include:

• Tissue biopsy to demonstrate lipofuscin (aging pigment) storage
• Autofluorescence, a light technique to see if white blood cells contain vacuoles or lipofuscin
• Electron microscopy of a skin biopsy to show abnormal inclusions in cells
• MRI or CT scans of the brain to show atrophy (shrinkage or small brain)
• EEG, which may show abnormal excitability of the brain and seizure
• Evoked visual potentials that be reduced or even absent
• Electroretinogram that may reveal severe impairment of vision
• Genetic testing (available for multiple subtypes of this group of diseases)

Treatment

Treatment depends on the specific symptoms and their extent. There may be a need for life-long assistance with care.

Support Groups

For information and support, see www.bdsra.org.

Outlook (Prognosis)

• Progressive visual disturbance to blindness
• Mental deterioration
• Probable death by the age of 10 if the disease is apparent in the first year of life
• Milder symptoms with no loss of vision and a normal life expectancy if disease is adult onset

Possible Complications

There is typically visual impairment or blindness in early-onset forms of the disease. Mental impairment can range from severe retardation at birth to only late-onset dementia. There can be severe problems with the nerves that control muscle tone, resulting in rigidity. The person may become totally dependent on others for help with daily activities.

When to Contact a Medical Professional

Call your health care provider if your child shows symptoms of blindness or retardation.

Prevention

Genetic counseling is recommended if your family has a known history of NCLS. A discussion of the risks and family planning can be useful. Prenatal or preimplantation genetic testing may be available depending on the specific subtype of disease.