What is Neuronal Ceroid Lipofuscinosis?

Stephany Seipel

The term "neuronal ceroid lipofuscinosis" refers to a family of inherited neurodegenerative disorders that lead to death. The conditions can occur in infants, children and adults. The symptoms and life expectancy vary, depending upon the type of disorder and the age of the patient at onset.

An electroencephalogram -- or EEG -- machine measures electrical impulse activity in the brain and can help give a diagnosis for various neurological conditions such as neuronal ceroid lipofuscinosis.
An electroencephalogram -- or EEG -- machine measures electrical impulse activity in the brain and can help give a diagnosis for various neurological conditions such as neuronal ceroid lipofuscinosis.

These disorders occur when genetic mutations inhibit the production of certain enzymes that eliminate or reuse proteins in the brain. Lipopigments, which are substances made up of proteins and fats, build up in the tissues of the body. They accumulate in the nerve cells, where they damage and destroy cellular tissue.

Children who have been diagnosed with neuronal ceroid lipofuscinosis may suffer from vision loss.
Children who have been diagnosed with neuronal ceroid lipofuscinosis may suffer from vision loss.

Neuronal ceroid lipofuscinosis disorders are autosomal recessive; in other words, a child must inherit two copies of the defective gene to develop the condition. This disease affects people of some ethnic backgrounds more than others. People who are of Turkish, Finnish, Czechoslovakian, Pakistani or Indian heritage are at higher risk than people from other ethnicities.

The electrical impulses of the brain appear as wavy lines on an EEG recording.
The electrical impulses of the brain appear as wavy lines on an EEG recording.

These disorders are classified according to the age of onset. Jansky-Bielschowski disease, for example, occurs in late infancy or early childhood. Patients develop epilepsy or seizures, a lack of muscle coordination, vision loss and mental decline.

Batten disease typically affects children who are 5-10 years old. Children who have this disorder also suffer from vision loss, seizures and cognitive impairment. Jansky-Bielschowski and Batten disease both gradually worsen and eventually lead to death, often before early adulthood. Children who develop symptoms of neuronal ceroid lipofuscinosis before they are 1 year old rarely survive their first decade of life.

Adults develop a version of neuronal ceroid lipofuscinosis called Kufs disease or Parry's disease. The symptoms are less severe than those of Batten disease or Jansky-Bielschowski disease. Adults develop many of the same symptoms as children, such as motor coordination issues and seizures, but they normally do not lose their sight. Patients who develop the condition in adulthood can anticipate a relatively normal life expectancy.

Doctors diagnose neuronal ceroid lipofuscinosis disorders by performing a variety of tests. They perform blood work to measure the enzyme levels within the body, and they monitor electrical activity levels within the brain by performing electroencephalogram (EEG) tests. They might also perform tissue or skin biopsies, genetic tests or vision screenings.

There was no cure or specific treatment for neuronal ceroid lipofuscinosis as of early 2011. Doctors prescribe medication to control the seizures. Most patients with these disorders eventually become entirely dependent on their caregivers as the condition progresses.

Doctors use EEG tests monitor brain activity in patients who suffer from neuronal ceroid lipofuscinosis.
Doctors use EEG tests monitor brain activity in patients who suffer from neuronal ceroid lipofuscinosis.

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