Ohtahara syndrome: causes, symptoms and treatment

This is one of the earliest epilepsy diseases, since it appears in newborns.

During infancy, especially soon after birth or during the gestation period, neurological diseases resulting from genetic maladjustments or disturbances during this delicate phase of life are relatively common. This is the case, for example, with an epileptic type of pathology known as Ohtahara syndrome..

In this article we will see what are 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 infants just 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 is estimated to account for less than 4% of cases of childhood epilepsy (although its occurrence is not evenly distributed, as it affects slightly more boys than girls).

Symptoms

The symptoms of Ohtahara syndrome are associated with disturbances linked to epileptic seizures with convulsions.. These seizures are usually of the tonic type (i.e., intense, with a state of muscular rigidity that almost always involves falling to the floor and loss of consciousness) and rarely myoclonic (i.e., brief states of muscular rigidity and often with the seizure being so insignificant that it may go unnoticed).

In the case of myoclonic seizures, the 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, these seizures can be focal or generalized.

Other related symptoms are apnea and difficulties in swallowing and breathing.

Diagnosis

Being such a rare disease, there is no specific tool for its diagnosis, and it is left to the expertise of the medical team. For this purpose, neurologists and psychiatrists use neuroimaging technologies and scans of nerve activity, such as computed tomography or encephalogram, which reveal a characteristic activation pattern with very marked peaks of activity followed by periods of very 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 the type of disease involved.

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 it produces in the nerve cells of the brain is known, 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 abnormalities have also been associated with this disease.

Treatments

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

On the other hand, interventions based on dietary changes (e.g. with ketogenic diets) have also been used, although with very little success. In general, the course of the disease does not improve, and seizures become more frequent and intense.

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

Prognosis

On the other hand, this is a disease with a poor prognosis, this is a disease with a poor prognosisMost cases end in early death during early childhood, as the disease tends to worsen. Even if during the first few sessions the treatment seems to improve the course of the syndrome, later on its efficacy usually remains more moderate.

In addition, Ohtahara syndrome can lead to the appearance of other health problems related to the effect that epileptic seizures have on the organism, such as mental retardation, respiratory problems, etc. on the organism, such as mental retardation, respiratory problems, etc. This means that even children beyond the first year of life are left with a certain type of disability to which it is necessary to be able to adapt.

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