Infantile Batten is a subtype of Batten disease, a progressive and inherited disorder of the nervous system that’s also known as neuronal ceroid lipofuscinoses (NCL). Batten disease has several types, generally classified by the gene involved and the age at which symptoms start.
Infantile Batten disease, with symptom onset generally in infancy or toddler years, may also be referred to as CLN1 disease, Santavuori-Haltia disease, or infantile NCL.
Causes of infantile Batten disease
Infantile Batten disease is caused by a mutation in the PPT1 (or CLN1) gene, which provides instructions to produce the PPT1 (palmitoyl-protein thioesterase 1) enzyme. This enzyme is involved in breaking down proteins that are no longer needed by cells, removing long-chain fatty acids from certain proteins, which helps to break them down.
When the PPT1 enzyme is absent or working poorly, partly broken down fats and proteins, called lipofuscins, build in cell compartments called lysosomes. This accumulation prevents cells from being able to work as they should, and can lead to their death. Nerve cells are particularly vulnerable to the buildup of lipofuscins, and to 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 accumulation of lipofuscin, and the loss of nerve cells starting at a very young age.
In later-onset cases of CLN1 disease, mutations result in the production of a PPT1 enzyme with a lower level of normal function, but still higher than in patients whose disease begins in early childhood. As such, waste takes longer to accumulate in lysosomes, and symptoms develop later in life.
Symptoms of infantile Batten disease
Symptoms of infantile Batten disease usually appear very early in life, when a baby is between 2 and 24 months old, and they progress rapidly.
Although these children initially show signs of normal development, this changes as the disease takes hold and they typically regress with disease progression. The age of symptom onset 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
- 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 usually experience progressive vision loss and reduced muscle coordination (ataxia). Children with infantile Batten 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, may also be evident due to brain atrophy as nerve cells die.
There is currently no cure for infantile Batten disease. However, some available treatments may help manage Batten 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 who have, or are at risk of having, a child with infantile Batten disease to help them understand and cope with the impact this diagnosis may carry.
Last updated: Oct. 01, 2021
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