Batten disease: symptoms, causes and treatment

The number of rare diseases registered throughout the entire history of medicine ranges between 5,000 and 7,000 different diseases or conditions, of which the vast majority have their origin in some type of alteration genetics.

One of these rare genetically charged diseases is Batten disease.. It is a medical condition that exclusively affects children and its symptoms can lead to total dependence and sometimes death.

What is Batten disease?

Batten disease is a condition of genetic origin and life-threatening course that affects the nervous system of the child. This disease begins to appear between 5 and 10 years of age and its first symptoms are recognizable because the child begins to suffer from seizures and vision problems.

Also, it is possible that they initially appear other much more subtle symptoms such as changes in the child's personality and behavior, difficulties and delay in learning and clumsy movements and falls when walking.

This condition was first described in 1903 by the pediatrician Frederik Batten, who gave it its current name. Besides

also known as juvenile neuronal ceroid lipofuscinosis.

Main features of this disease

As mentioned above, Batten disease is a genetic condition that It falls within the group of lysosomal storage disorders.. It has a very low incidence but has very disabling symptoms that can even lead to the death of the child.

Your genetic origin causes the cells of the human body to be unable to get rid of the substances and waste that circulate through it, causing an excessive agglomeration of proteins and lipids, that is to say, extracts of the fatty type.

This storage of fatty substances ends up causing considerable damage to the structures and cellular functions, which little by little leads to the distinctive gradual deterioration of this disease,

In addition, the structure most affected by Batten disease is the nervous system, being the brain the most damaged organ of the entire system.

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Symptoms

As already mentioned above, the current Batten disease mainly affects the nervous system, therefore all the symptoms belonging to this disease will be related to the neurological area.

This symptomatology mainly affects three areas of great neurological importance: vision, cognition and motor skills, on which it exerts a progressive deterioration effect.

The symptoms of each of the affected areas will be described below:

1. progressive loss of sight

Progressive vision deterioration is one of the first symptoms to appear in Batten disease. This symptom, which usually appears during the first years of life, It evolves until it causes total or partial blindness of the child when he is about 10 years old.

Some others are included in this category of symptoms, also related to vision, which appear throughout the course of the disease. These symptoms include:

• retinitis pigmentosa.
• macular degeneration.
• Optic atrophy.

2. seizures

Other symptoms that appear during the early stages of the disease are: seizure episodes repeated. These seizure episodes are transient incidents characterized by the presence of seizures caused by abnormal or excessive neuronal activity.

Within these convulsive episodes, two different classes can be distinguished:

focal seizures

These crises are produced by abnormal functioning of specific areas of the brain. These crises are characterized because the person is subjected to a series of rapid movements. During the course of these crises the person may suffer loss of consciousness, and rhythmic and involuntary movements in any part of the body.

generalized seizures

In this second type of epileptic seizures, abnormal neuronal activity affects practically all brain areas. Within this type of episodes are absence seizures, or tonic and atonic seizures among many others.

• Related article: "Absence seizures: causes, symptoms and treatment"

3. deficits in cognition

Both the agglomeration of lipid substances and the damage caused by epileptic seizures end up causing a severe neurological impairment, which is manifested by a loss of abilities that the child already had learned.

These cognitive deficits can affect any area of ​​language, memory, thinking or judgment. Likewise, this generation process tends to be accompanied by changes in the behavior, personality and mood of the child, and may even present some psychotic episode.

4. psychomotor problems

Also in Button's disease musculoskeletal and motor functions may be affected, coming to hinder and condition the mobility of the child.

Among these psychomotor problems may be:

• involuntary contraction of muscles.
• Burning sensation, numbness, itching and tickling in the upper and lower extremities.
• Hypotonia or hypertonia.
• Almost complete paralysis of the extremities.

5. Limitations and dependency

Finally, in the later stages of Batten disease children often have lost the ability to move and communicateTherefore, they are in a situation of absolute dependency.

Causes

As mentioned above, Batten disease has a genetic origin. Specifically, Its origin is located in the chromosomal pair 16 which presents a series of mutations in the CLN3 gene.. This gene is located in the nuclei of somatic cells.

Although the exact functions of this gene are not known, its mutation causes an abnormal and excessive accumulation of fatty material and substances in the tissues of the system highly strung.

These lipopigments cause a series of important damages in the affected cellular areas, beginning the progressive degradation hallmark of this condition.

Diagnosis

In the event that relatives are aware of the existence of a family history of Batten disease, it is necessary perform a prenatal examination or evaluation using the amniocentesis test or by chorionic villus sampling.

However, if the evaluation takes place after the birth of the child, it will be necessary to carry out a thorough evaluation to guarantee a correct diagnosis. Typical tests performed in this assessment are:

• Genetic studies.
• Nerve tissue biopsy.
• Physical exam.
• Neurological examination.
• Evaluation of visual capacity.
• Blood test.
• Urine analysis.
• electroencephalography (EEG).

Treatment

At the moment and due to the particularities of Batten disease, it has not yet been established a protocol of action or treatment of this that can stop the symptoms or make them forward.

Nevertheless, seizure symptoms can be controlled by administering anticonvulsant medication. Likewise, thanks to the benefits of physical and occupational therapy, children affected by Batten disease can preserve the functioning of their organism for as long as possible.

The stimulation of patients and the information and support for families through therapy groups can favor or facilitate coping with this disease.

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