Ohtahara syndrome: causes, symptoms and treatment

During childhood, especially shortly after birth or during the gestation period, it is relatively common for manifest neurological diseases resulting from genetic maladjustments or alterations during this phase of life so delicate. This is what happens, for example, with an epileptic-type pathology known as Ohtahara syndrome.

In this article we will see what are the causes, symptoms and treatments associated with this epileptic encephalopathy.

• Related article: "Types of epilepsies: causes, symptoms and characteristics"

What is Ohtahara syndrome?

Early childhood epileptic encephalopathy, also known as Ohtahara syndrome, is a type of epilepsy that is very early; Specifically, it appears in babies a few months old, often before the first trimester after delivery, or even before birth, in the prenatal stage.

Despite epilepsy It is a relatively common neurological pathology, Ohtahara syndrome is a rare disease, and it is estimated that it represents less than 4% of cases of childhood epilepsy (although its appearance is not distributed evenly, since it affects children somewhat more than boys). girls).

Symptoms

The symptoms of Ohtahara syndrome are associated with disorders linked to epileptic seizures with convulsions. These crises are usually of the tonic type (that is, intense, with a state of muscular rigidity that almost always involves falling to the ground and loss of knowledge) and rarely myoclonic (that is, of brief states of muscular rigidity and many times the crisis being so insignificant that it can pass unnoticed).

In the case of myoclonic seizures, periods of muscle rigidity usually last about 10 seconds, and appear both in the waking state and during sleep.

On the other hand, depending on the areas of the brain that are affected by their functioning, these crises can be focal or generalized.

Other related symptoms are apnea and difficulties swallowing and breathing.

• You may be interested in: "What happens in a person's brain when they have seizures?"

Diagnosis

Being such a rare disease, there is no specific tool for its diagnosis, and it is based on the experience of the medical team. To do this, neurologists and psychiatrists use neuroimaging technologies and scans of nerve activity, such as Computed Tomography or Encephalogram, which reveals a characteristic activation pattern with very marked peaks of activity followed by periods of great calm.

This lack of specific tools means that death often occurs before clearly knowing about it. what type of epilepsy is treated, and that sometimes there may not be a consensus on the type of disease that there is.

Causes of Ohtahara syndrome

As with all types of epilepsy in general, the causes of Ohtahara syndrome are relatively unknown. The strange pattern of neuronal activation that it produces in the nerve cells of the brain is known about its origin, but it is not known what is it that makes that pattern of electrical firing of the neurons appear and begin to spread throughout the rest of the system highly strung.

If we take into account other health problems that can precipitate the appearance of these epileptic seizures, it is known that metabolic disorders, The presence of tumors, heart attacks, malformations in the nervous system and certain genetic abnormalities have also been associated with this disease.

Treatments

The forms of medical treatment used to intervene in the cases of children with Ohtahara syndrome are usually based on administer drugs commonly used to alleviate the symptoms of other types of epilepsy, such as clonazepam or phenobarbital.

On the other hand, interventions based on changes in the diet (such as ketogenic diets) have also been used, although with very little success. In general, the evolution of the disease does not improve, and the epileptic seizures become more frequent and intense.

In extreme cases, surgery can be used, as is done in other types of epilepsy, although at such early ages these interventions tend to be very complicated.

Forecast

On the other hand, this is a disease with a poor prognosis, and most cases end in early death during early childhood, as the disease tends to worsen. Even though during the first sessions the treatment seems to make the course of the syndrome improve, later on its effectiveness tends to be more moderate.

Also, Ohtahara syndrome can cause other health problems related to the effect that epileptic seizures have on the organism, such as the Mental retardation, respiratory problems, etc. This means that even boys and girls who are over the first year of life are left with a certain type of disability to which they must know how to adapt.

It will be necessary to rely on the progress of research in this type of neurological diseases to develop the prevention, diagnosis and treatment tools necessary for Ohtahara syndrome to stop being a serious health problem health.