During childhood, especially after birth or during the gestation period, it is relatively common for neurological diseases to appear as a result of genetic maladjustments 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 the causes, symptoms and treatments associated with this epileptic encephalopathy.
What is Ohtahara syndrome?
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, often before the first trimester after birth, or even before birth in the prenatal stage.
Although epilepsy is a relatively common neurological condition, Ohtahara syndrome is a rare disease, and it is estimated to account for less than 4% of childhood epilepsy cases (although its occurrence is not evenly distributed, as it affects somewhat more boys than girls).
The symptoms of Ohtahara syndrome are associated with disorders linked to epileptic seizures . These seizures are usually tonic (that is, intense, with a state of muscular rigidity that almost always involves falling to the ground and loss of consciousness) and rarely myoclonic (that is, brief states of muscular rigidity and often being so insignificant that the seizure may go unnoticed).
In the case of myoclonic crises, periods of muscle stiffness usually last about 10 seconds, and they appear both in the waking state and during sleep.
On the other hand, depending on the areas of the brain that are affected in their functioning, these crises can be focal or generalized.
Other related symptoms are apnea and difficulties in swallowing and breathing.
Because it is such a rare disease, there is no specific tool for its diagnosis, and it is up to the experience of the medical team. For this purpose, neurologists and psychiatrists use neuroimaging and nerve activity scanning technologies, such as computerized tomography or the 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 it is clear what type of epilepsy it is, and sometimes there may be no consensus on what type of disease it 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, but it is not known what causes this pattern of electrical firing of the neurons to appear and begin to spread to the rest of the nervous system.
If we consider 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.
The forms of medical treatment used to intervene in the cases of children 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 with ketogenic diets) have also been used, although with very little success. In general, the evolution 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 early ages these interventions tend to be very complicated.
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 get worse. Even though during the first sessions the treatment seems to make the course of the syndrome improve, later its effectiveness is usually more moderate.
In addition, Ohtahara syndrome can cause other health problems to appear related to the effect that epileptic seizures have on the body, such as mental retardation, respiratory problems, etc. This means that even in children over the first year of life they 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 into this type of neurological disease to develop the tools of prevention, diagnosis and treatment necessary to stop Ohtahara syndrome from being a serious health problem.