Batten Disease

Batten disease (neuronal ceroid lipofuscinosis) is a fatal, inherited disorder of the nervous system. It begins in childhood.

SYMPTOMS

In some cases, the early signs are subtle. They may take the form of:

  • Vision loss.

  • Personality and behavior changes.

  • Slow learning.

  • Clumsiness.

  • Stumbling.

Problems (symptoms) of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. The lipopigment that is built up in Batten disease is called ceroid lipofusin. This is similar to the aging pigment in the body. So Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist.

DIAGNOSIS

Diagnostic tests for this disease include:

  • Blood or urine tests.

  • Skin or tissue sampling.

  • Brain scans.

  • An EEG (electroencephalogram).

  • Electrical studies of the eyes.

TREATMENT

As yet, no specific treatment is known that can halt or reverse the symptoms of this disease. But convulsions (seizures) can sometimes be reduced or controlled with anticonvulsant drugs. Other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.

  • Over time, affected children suffer:

  • Mental impairment.

  • Worsening seizures.

  • Progressive loss of sight and movement (motor) skills.

  • Eventually, children with Batten disease become:

  • Blind.

  • Bedridden.

  • Demented.

  • Batten disease is often fatal by the late teens or twenties.