Ohtahara syndrome: causes, symptoms and treatment

During childhood, especially after birth or during the gestation period, it is relatively common for neurological diseases to manifest themselves as a result of genetic mismatches or alterations during this delicate phase of life. This is what happens, for example, with an epileptic-like 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 childhood epileptic encephalopathy, also known as Ohtahara syndrome, is a type of very early epilepsy; more precisely, it appears in infants a few months old, often before the first trimester after birth, or even before birth, at the prenatal stage.

    Although epilepsy is a relatively common neurological condition, Ohtahara syndrome is a rare condition, and it is estimated to account for less than 4% of childhood epilepsy cases (although its onset is not widely reported) . Homogeneous, because it affects children a little more than children).

    symptoms

    Symptoms of Ohtahara syndrome are associated with seizure related disorders.. These seizures are usually tonic (that is, intense, with a state of muscle stiffness that almost always involves a fall to the floor and loss of consciousness) and rarely myoclonic (that is, brief states of muscle stiffness and often feel the seizure so insignificant that it can go unnoticed).

    In the case of myoclonic seizures, periods of muscle stiffness usually last about 10 seconds and appear both awake and during sleep.

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

    Other associated symptoms are apnea and difficulty swallowing and breathing.

      diagnostic

      Being such a rare disease, there is no specific tool for its diagnosis, and this is based on the experience of the medical team. To do this, neurologists and psychiatrists use neuroimaging and scanning technologies for nerve activity, such as computed tomography or encephalogram, which reveal a characteristic activation pattern with very marked spikes in activity followed by periods. a lot of calm.

      This lack of specific tools often results in death before having a clear idea of ​​the type of epilepsy involved, and sometimes there is no consensus on what type of disease exists.

      Causes of Ohtahara syndrome

      As with all types of epilepsy in general, the causes of Ohtahara syndrome are relatively unknown. Its origin is known for the strange pattern of neuronal activation that it produces in nerve cells in the brain, but it is not known what causes it to appear and start to spread in the brain. Rest of the nervous system.

      If we consider other health problems that can precipitate the onset of these epileptic seizures, we know that metabolic disorders, the presence of tumors, heart attacks, malformations of the nervous system and certain genetic abnormalities also have been associated with this disease.

      treatments

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

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

      In extreme cases, surgery can be used, as it is in other types of epilepsy, although at such an early age these procedures tend to be very complicated.

      Provide

      On another side, it’s a disease with a bad prognosisAnd most cases end in premature death in infancy, as the disease tends to worsen. Even during the first sessions, the treatment seems to improve the evolution of the syndrome, later its effectiveness is generally more moderate.

      In addition, Ohtahara syndrome can cause other symptoms to appear. health problems related to the effect of epileptic seizures they have on the body like mental retardation, breathing problems etc. This means that even in boys and girls in the first year of life they end up with some type of disability that they need to know how to cope with.

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

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