Late infantile Batten disease is a serious inherited disease of children, typically ages 2 to 4. (Batten disease is the name given to a group of five related conditions, all collectively known as neuronal ceroid lipofuscinoses, or NCLs.)

It is characterized by seizures, loss of motor skills and cognitive ability, and a reduced life expectancy.

This Batten type may sometimes be referred to as Jansky-Bielschowsky disease, or CLN2 disease.

Causes of late infantile Batten disease

Late infantile Batten disease is caused by mutations in the TPP1 gene. This gene encodes for an enzyme called tripeptidyl peptidase 1 (TPP1) that is responsible for breaking down protein wastes in the lysosome, a cellular compartment that functions as “the trash-collector” of the cell, because it stores cellular waste until it can be destroyed or recycled.

Mutations in the TPP1 gene lead to little or no TPP1 enzyme being produced, causing a buildup of wastes inside cells composed of fat and proteins called lipofuscins. These lipofuscins poison the cell, eventually killing them. Nerve cells are particularly sensitive to the harmful effects of lipofuscins. That is why people with late infantile Batten disease develop neurological symptoms.

Symptoms

The earliest symptoms of late infantile Batten disease are vision loss and seizures, although children may also develop muscle twitches (myoclonus) and have difficulty walking and maintaining balance (ataxia). Children with this disease may also be slow to learn, and regress in mental or motor development once symptoms appear.

Diagnosis

The diagnosis of all types of Batten disease remains challenging and difficult, and misdiagnosis is very common. The surest way to confirm the disease is through genetic testing, where a blood sample is used to isolate DNA. The DNA is then sequenced to determine whether disease-causing mutations are present. To date, 14 genes associated with cellular waste trafficking have been linked to different types of Batten disease. Mutations in the TPP1 gene are known to cause late infantile Batten disease.

For some patients, a tissue biopsy, usually from the skin, may be used to determine the presence of lipofuscins when the tissue is examined under a microscope. A small tissue sample can also be used to measure TPP1 enzyme activity and determine if it is lower than usual.

Treatment

Brineura (cerliponase alfa) is an enzyme replacement therapy designed to slow the loss of walking ability in children with late infantile Batten disease. It is the only treatment approved by the U.S. Food and Drug Administration (FDA)  for use in patients any form of Batten disease.

Anticonvulsants, such as valproic acid and lamotrigine, are often prescribed to reduce the severity and number of seizures. Some treatments may also reduce muscle twitches.

Prognosis

Late infantile Batten disease patients often require a wheelchair by late childhood, and most do not survive their teenage years. But some children with this disease may have a milder form, with symptoms appearing after age 4. These children usually experience more severe ataxia. They also have a diminished life expectancy, although they are more likely to reach adulthood.

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