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What is Batten Disease?

By Dr Ananya Mandal, MD

Batten disease is an inherited neurological disease that is often fatal. It usually develops during childhood, between the ages of 5 and 10 years. The earliest symptoms range from being fairly obvious, with a child experiencing seizures or vision problems, through to subtle signs such as mild personality changes or clumsiness.

Pathology and manifestations of Batten disease

Batten disease is also known as Spielmeyer-Vogt-SjögrenBatten disease and is the most common of the diseases collectively known of as neuronal ceroid lipofuscinoses (NCL). Batten disease was originally used to describe the juvenile form of NCL but is now more commonly used to refer to all forms of NCL.

The symptoms of Batten disease are caused by a build up of substances called lipopigments, composites of fat and protein, in the tissues of the body.

These lipopigment deposits accumulate in the eyes, brain, skin, muscles and other tissues, damaging neurons in the retina and central nervous system. Eventually, children develop mental impairment, seizures, and worsening sight and motor skills until they became blind or bedridden.

Batten disease epidemiology and inheritance

NCLs are rare disorders, affecting around 2 to 4 of every 100,000 live births in the United States. The disease has a higher prevalence in Finland, Sweden and other parts of northern Europe. Batten disease is inherited in an autosomal recessive fashion, meaning a child needs to inherit two defective genes (one from each parent) for the disorder, if they are to develop the disease.

When both parents carry one defective gene, each of the couple's children has a one in four chance of developing NCL. Each child also has a one in two chance of inheriting just one copy of the defective gene, making them a carrier of the gene. This means they can pass the gene onto their children even though they do not develop the illness themselves.

Diagnosis

Tissue sampling
Tissue can be examined using an electron microscope to look for NCL deposits. Skin, muscle, conjunctiva or blood samples may be used.

Electroencephalogram (EEG)
This instrument is used to measure electrical activity in the brain, to give an indication of whether a patient may be experiencing seizures.

Electrical studies of the eye
These tests can be used to examine the retina and visual responses for signs of problems that are common in Batten disease.

Brain scan
A computed tomography scan or magnetic resonance imaging scan may be used to reveal areas of decay in the brains of NCL patients.

Treatment
Currently, there are no specific treatments to stop or prevent the progression of Batten disease. However, symptoms of the disease such as seizures can be controlled with anticonvulsant drugs or anti-epileptic drugs. Physiotherapy and occupational therapy may also provide some symptom relief and help to retain bodily function for as long as possible.

Reviewed by , BSc

Further Reading

Last Updated: Feb 13, 2014

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