During childhood, especially after birth or during the gestation period, it is relatively common for neurological diseases to manifest as a result of genetic imbalances or alterations during this delicate phase of life. 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.
Early infantile 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, many times before the first trimester after childbirth is complete, or even before birth, in the prenatal stage.
Although epilepsy 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 homogeneously, since which affects boys somewhat more than girls).
Symptoms
The symptoms of Ohtahara syndrome are associated with alterations linked to epileptic seizures with seizures. These seizures are usually of a tonic type (that is, intense, with a state of muscle rigidity that almost always involves falling to the ground and losing consciousness) and rarely myoclonic (that is, of brief states of muscle rigidity and often being the crisis so insignificant that it can go unnoticed).
In the case of myoclonic seizures, periods of muscle rigidity usually last about 10 seconds, and appear both when awake and during sleep.
On the other hand, depending on the areas of the brain that see their functioning affected, these crises can be focal or generalized.
Other related symptoms are apnea and difficulties when swallowing and breathing.
Diagnosis
Being such a rare disease, there is no specific tool for its diagnosis, and this depends on the experience of the medical team. To do this, neurologists and psychiatrists use neuroimaging technologies and scanning of nervous activity, such as Computerized Tomography or Encephalogram, which reveal 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 what type of epilepsy it is, and that sometimes there may be no consensus on the type of disease 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 causes this pattern of electrical firing of neurons to appear and begin to spread throughout the rest of the nervous system.
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 anomalies have also been associated with this disease.
Treatments
The forms of medical treatment used to intervene in cases of boys or girls with Ohtahara syndrome are usually based on administering 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 diet (such as ketogenic diets) have also been used, although with very little success. In general, the course of the disease does not improve, and 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 young 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 if during the first sessions the treatment seems to make the course of the syndrome improve, later its effectiveness usually becomes more moderate.
Additionally, Ohtahara syndrome can cause other health problems related to the effect that epileptic seizures have on the body, such as mental retardation, respiratory problems, etc. This means that even boys and girls who exceed 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 so that Ohtahara syndrome is no longer a serious health problem.
