Infantile Batten disease is a severe subtype of Batten disease, a progressive and inherited disorder of nervous system that’s also known as neuronal ceroid lipofuscinoses (NCL). There are several types of Batten disease generally classified by the gene involved and the age at which symptoms start.

Infantile Batten disease may also be referred to as CLN1 disease, Santavuori-Haltia disease, or infantile neuronal ceroid lipofuscinoses (INCL).

Causes of infantile Batten disease

Infantile Batten disease is caused by a mutation in the PPT1 gene, which provides instructions to produce the PPT1 enzyme. This enzyme is involved in breaking down proteins that are no longer needed by cells, removing a section called a fatty acid from them.

When the PPT1 enzyme is absent or working poorly, partly broken down fatty waste proteins, called lipofuscins, build up in cell compartments called lysosomes. This accumulation prevents cells from being able to work as they should, and can eventually lead to their death. Nerve cells are particularly vulnerable to the build up of lipofuscins and their toxic effect.

In infantile Batten disease, the mutation normally leads to very little or no working production of the PPT1 enzyme. The result is a very quick buildup of lipofuscin, and the loss of nerve cells from a very young age.

Symptoms of infantile Batten disease

The symptoms of infantile Batten disease usually appear very early in life, when a baby is between two and 24 months old, and they progress rapidly. Although these children initially show signs of developing normally, this changes as the disease takes hold and they can regress with disease progression. The age of onset of the symptoms usually depends on how much PPT1 enzyme can be produced.

Early signs of infantile Batten disease include a failure to reach normal intellectual and motor development milestones. Other symptoms include:

  • Myoclonic jerks, or sudden involuntary jerks or twitches
  • Seizures
  • Failure to thrive, or inability to gain weight and grow in an age-appropriate manner
  • Hypotonia, or decreased muscle tone, resulting in the child seeming “floppy”
  • Difficulty sleeping through the night
  • Repetitive and predictable hand movements (called hand stereotypies)
  • Spasticity, or stiff muscles

These children may never learn to speak or walk, or may lose such ability as they age. As the disease progresses, they can also experience progressive vision loss and reduced muscle coordination (ataxia). Infantile Batten children can become completely dependent by age 3, unable to communicate or feed themselves. At this stage, a feeding tube may be necessary to give proper nutrition.

Microcephaly, or an abnormally small head, can also occur due to brain atrophy as nerve cells die.

Diagnosis

A diagnosis of infantile Batten disease is usually reached following an enzyme assay that checks the activity of the PPT1 enzyme, once symptoms have been identified.

Genetic testing may also be carried out, to confirm mutations in the PPT1 gene.

To confirm the diagnosis, a tissue biopsy may also be taken and examined under a microscope. In Batten disease, the accumulating lipofuscins usually appear as yellow-brown deposits inside cells.

Treatment

There is currently no cure for infantile Batten disease. However, some available treatments may to help manage the symptoms.

For example, anticonvulsant medications can help control seizures. Myoclonic jerks may be eased with the use of benzodiazepines. A doctor may also prescribe medications for anxiety, depression, or pain, if required.

Some children with infantile Batten disease may benefit from physical therapy or speech therapy.

Research into investigational treatments, including gene therapy, enzyme replacement therapy, stem cell transplants, and various medications, is ongoing. It is hoped that these will provide a more effective way of managing — and potentially treating — the disease.

Genetic counseling may be recommended for families with a child with infantile Batten disease, to help them understand and cope with the impact this diagnosis may carry.

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