Batten disease: symptoms, causes and treatment

This disease affects the nervous system of children, causing it to progressively fail.

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

One of these rare diseases with a genetic burden 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 life-threatening genetic condition that affects a child's nervous system. that affects a child's nervous system. The disease begins to appear between the ages of 5 and 10. The first symptoms are recognizable because the child begins to have seizures and vision problems.

Other much more subtle symptoms, such as changes in the child's personality and behavior, may also appear initially. other much more subtle symptoms, such as changes in the child's personality and behavior, learning difficulties and delaysThe condition was first described in the United States in the early 1990s.

This condition was first described in 1903 by the pediatrician Frederik Batten, who gave it its present name. In addition it is also known as juvenile neuronal ceroid lipofuscinosis..

Main features of this disease

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

Its genetic origin causes the cells of the human body to be unable to get rid of the substances and residues that circulate in it, causing an excessive agglomeration of proteins and lipids, i.e. fatty extracts.This causes an excessive agglomeration of proteins and lipids, i.e. fatty extracts.

This storage of fatty substances eventually causes considerable damage to cellular structures and functions, which gradually leads to the gradual deterioration that is a hallmark of this disease,

Likewise, the structure most affected by Batten disease is the nervous system, the brain being the most damaged organ.The brain is the most damaged organ of the whole system.

Symptoms

As already named above, Batten disease current mainly on the nervous system, therefore all the symptomatology pertaining to this disease will be related to the neurological area..

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

The symptoms specific to each of the affected areas are described below:

Progressive loss of sight 2.

The progressive deterioration of sight is one of the first symptoms that appear in Batten disease. This symptom, which usually appears during the first years of life, evolves to lead to total or partial blindness of the child by the age of about 10 years. when the child is about 10 years old.

Within this category of symptoms are included some others, also related to vision, which appear throughout the development 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 repeated convulsive episodes. These seizure episodes are transient incidents characterized by the presence of seizures caused by abnormal or excessive neuronal caused by abnormal or disproportionate neuronal activity..

Within these seizure episodes two different classes can be distinguished:

Focal seizures

These seizures are produced by an abnormal functioning of a specific area of the brain. These seizures are characterized because the person is subjected to a series of rapid movements. During the course of these seizures the person may suffer loss of consciousnessand involuntary rhythmic movements in any part of the body.

Generalized seizures

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

3. Deficits in cognition

Both the agglomeration of lipid substances and the damage caused by epileptic seizures end up causing severe neurological deterioration, which is manifested by a loss of the abilities that the child had already 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 child's behavior, personality and mood, and may even present a psychotic episode.

4. Psychomotor problems

In Button's disease, muscular and motor musculoskeletal and motor function may also be affected in Button's disease.The child's mobility may be hindered and conditioned by these psychomotor problems.

Within these psychomotor problems may occur:

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

5. Limitations and dependence

Finally, in the later stages of Batten disease children often have lost the ability to move and communicate, and are therefore in a situation of absolute dependence.They are therefore in a situation of absolute dependency.

Causes

As mentioned above, Batten disease has a genetic origin. Specifically, its origin is located in chromosome 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 nervous system.

These lipopigments cause a series of important damages in the affected cellular areas, starting the progressive degradation of the nervous system.This causes the progressive degradation that is distinctive of this condition.

Diagnosis

If family members are aware of a family history of Batten disease, prenatal screening is necessary. prenatal screening or evaluation using the amniocentesis test or by amniocentesis or by chorionic villus sampling.

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

• Genetic studies.
• Biopsy of nerve tissue..
• Physical examination.
• Neurological examination.
• Evaluation of visual capacity.
• Blood test.
• Urinalysis.
• Electroencephalography (EEG).

Treatment

At the moment and due to the particularities of Batten disease, there is still no established protocol for action or treatment that can stop the symptoms or make them remit.

However, seizure symptomatology can be controlled by administration of Anticonvulsant medication.. Also, 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 the patients and the information and the support to the families by means of therapy groups can favor or facilitate the confrontation to this disease.