Ohtahara syndrome is a rare disease in newborns. Ill infants suffer epileptic seizures. Both sexes are affected by the disease.

What is the Ohtahara syndrome?

Under the Ohtahara syndrome or the early infantile myoclonic encephalopathy is understood as a developmental disorder of the brain. The affected are newborns who notice muscle tension problems and suffer from epileptic seizures. The infants suffer a spontaneously occurring seizure.

This seizure is triggered by a previous cause. Ohtahara syndrome occurs only in infants and in early childhood development. Since only about 200 documented cases of neonatal brain disease with epilepsy are known worldwide, it is a very rare disease.

So far, no gender differences were found in the documented cases with regard to the likelihood of occurrence. The disease occurs so in newborn boys and girls alike. Shortly after birth, the first symptoms appear in the ill infants.

The first description was made in 1976. The Japanese epileptologist Ohtahara is the namesake of this very rare disease. He researched the Ohtahara syndrome in collaboration with several colleagues.

causes

The cause of Ohtahara syndrome is a serious developmental disorder of the brain. This is especially a strong disorder of brain function. However, the research results of the scientists and neurologists have so far not been able to provide a complete explanation.

It is known that there is a severe malformation of the brain tissue in newborns. The malformations affect either the entire brain or only a few parts of the brain. At the same time, the affected persons always have different brain regions.

Shortly after birth, there are first signs of severe brain damage. Patients with Ohtahara syndrome may have mutations in the brain or structural brain malformations. Sexually, it has been found that male patients have mutations of the X chromosome.

Symptoms, complaints & signs

The first sign of a disease is the reduction in total tension of the body muscles. This is detectable shortly after birth. In addition, newborns suffering from early infantile myoclonic encephalopathy already have difficulties with the posture of the head right after birth.

Due to the lack of muscle tension, it is not possible for them to keep their heads age-appropriate. In the first weeks of life or within the first three months of life, the patients suffer epileptic seizures. Sometimes it comes after birth to a seizure.

Initially, short seizures or infantile spasms occur, which become worse in the later course of the disease. In several parts of the body muscle tension occurs, which can last from a few seconds to a few minutes. The muscle tension manifests itself in cramps that vary from child to child.

In addition, there may be rhythmic jerking of the extremities. Affected may be one or more extremities. As a result of a brief attack, the consciousness of the ill infant is usually intact. Longer lasting seizures may cause disturbances of consciousness.

Often after a seizure there is a diminished reaction of the patient. For example, it may happen that, for example, babies do not react to it until after about a minute.

Diagnosis & disease course

Diagnosis of Ohtahara syndrome is done in two different medical ways. The damage to the brain is detected by magnetic resonance therapy (MRI) in a hospital. The imaging procedure looks at the structure and function of different brain regions.

The areas where damage has occurred are located above it. The medical evidence of epileptic seizures via an electroencephalogram (EEG). This device records the electrical activity of the brain. With the EEG, the nerve cells are observed in the brain and tensions in the brain can be determined.

Even in a seizure-free period, abnormalities can be determined. The use of the EEG can take place in both awake and sleeping children. In the further course of the disease further epilepsy syndromes may occur. These include the West Syndrome from the 4th month of life and Lennox-Gastaut syndrome at the age of approximately two to eight years.

complications

Ohtahara syndrome usually has a very poor prognosis. There is no curative therapy. Many children die of complications occurring in the first year of life. Since the disease can hardly be drug-adjusted, there remains only a symptomatic treatment to reduce the risk of complications. The strength and nature of each epileptic seizure varies from child to child as well as the individual.

During the seizure, a variety of complications may occur, which may even lead to death. The most common complications include injuries such as bites, lacerations, vertebral fractures, and more. Fatal accidents often occur as a result of aspiration of food or water, as well as suspension of breathing, including oxygen deficiency in the brain.

In 75 percent of all cases of illness develops as a complication, the West syndrome with lightning, pitching and salaaman falls. These are characterized by twitching of the whole body, nodding head movements and rapid flexion of the head and trunk forward. The West Syndrome is very difficult to treat and usually leads to long-term severe cognitive impairment, behavioral problems and other mental disorders.

About five percent of patients do not survive the first five years of life. Another complication of Ohtahara syndrome is Lennox-Gastaut syndrome. Also, this condition is difficult to treat, usually leading to severe cognitive impairment, and can kill fatally in five percent of cases in the first years of life.

When should you go to the doctor?

Ohtahara syndrome occurs in newborns. Therefore, the guardians and caregivers of the child have a special responsibility when it comes to irregularities in the health of the offspring. There is a need for action in case of irregularities of the muscular system. If there is a loss of muscle tension, a doctor is needed. If the baby shows unusual behavior, watch this carefully. If you have cramps, if you refuse to eat, if you are crying, or if you keep yelling, go to a doctor.

In an acute health-threatening condition, an emergency doctor must be called immediately. A disturbance of consciousness or a loss of consciousness are alarming states that require immediate action. First aid measures are to be provided until the arrival of the ambulance service, so that the survival of the newborn is ensured.

Shortness of breath, lack of oxygen or a blue coloring of the skin must be supplied immediately by an emergency physician. There is a shortage of the organism, which can end untreated with the demise. In addition to persistent cramps, stiffness of the body is worrisome. If the child does not react appropriately to social interactions, a medical examination is required. A delayed reaction is unusual and needs to be clarified. In the case of rhythmic convulsions or the onset of seizures, a doctor should be consulted immediately.

Treatment & Therapy

The treatment of infants with the Ohtahara syndrome is very difficult. Many of the sick children do not survive the first months of life or the first year of life. In almost all known cases of children suffering from the epileptic seizures experienced a resistance to the drug used.

ACTH treatment was successfully used in a few cases. In this treatment, the hormone adrenocorticotropin (ACTH) is used intramuscularly. ACTH is a hormone of the pituitary gland that is injected directly into a muscle for relief. Administration of the hormone should reduce the frequency of seizures and, at best, make them disappear.

In the further course, the children with Ohtahara syndrome develop a developmental disorder. In individual cases, it must be checked which brain regions have malformations. Accordingly, individual disruptions are to be expected, which must be addressed by various measures.

All therapy methods are still about relief and not about healing. The cognitive as well as the psychomotor development will remain permanently behind children of the same age.

Outlook & Forecast

The medical prognoses for early childhood Ohtahara syndrome are not very good. It is clear that the extremely rare disease leads to permanent impairment of quality of life. Early infantile epileptic encephalopathy with suppression-burst has only been diagnosed 200 times worldwide. This makes it one of the rare diseases for which there are hardly any treatment options. That does not exactly improve the prospects.

It is also problematic that a relatively high number of newborns with Ohtahara syndrome usually develops other forms of epilepsy in the course of this form of epilepsy. About three-quarters of all affected newborns with Ohtahara syndrome develop a West syndrome after a few months. Others develop Lennox-Gastaut syndrome in the age of two to eight years.

It should be noted that such children remain impaired in their development because of brain damage. In particular, the psychomotor and cognitive abilities are much lower in life than in non-affected children. Nevertheless, the prospects vary from child to child. For example, the extent of brain damage is decisive for the prognosis. The type of brain damage that is present can also improve or worsen the prognosis.

Overall, the prognosis in Ohtahara syndrome is assessed by the medical profession as bad to very bad. The reason for this assessment is not in the mental impairments. Rather, he is to be found in the high mortality rate of the children.

prevention

Preventive measures can not be taken in Ohtahara syndrome. Brain damage is still undetectable in the womb. Immediately after birth, they are perceived and then diagnosed due to the marked abnormalities.

aftercare

In most cases, Ohtahara syndrome has very few or no special follow-up measures. As this is also a hereditary disease, it usually can not be completely cured, so the person is always dependent on a medical examination and treatment. Only in this way can a further deterioration of the symptoms be prevented.

If the affected person wishes to have a child, genetic testing and counseling is recommended to prevent the recurrence of the disease. The treatment itself is based on various medications. It should always be paid to the regular intake and also to a correct dosage of the drug.

In children, the parents must control the prescribed intake. Likewise, the children are dependent on intensive support and care in their everyday lives. With the help of loving and intensive conversations, depression or other mental upsets can be prevented. Whether Ohtahara's syndrome reduces life expectancy can not generally be predicted.

You can do that yourself

Individuals suffering from Ohtahara syndrome may experience a relatively uncomfortable daily routine through some measures. First of all, the precaution for any epileptic seizures is important. Renovation measures in the household and the registration at a school are just two necessary steps. Since the disease can occur at various stages and may vary from patient to patient, the necessary steps should always be taken in consultation with the doctor.

If the person is suffering from an epileptic seizure, you must provide first aid as a relative or present. The patient should be laid down and pulled out at the upper body. In addition, it should be placed in a safe environment in which there is no risk of injury. Accompanying this, the rescue service should be called. Avoid shaking or shaking on the affected person, as these measures do not improve in case of an epileptic seizure. Children should, however, be held if they have a seizure again, so that it does not come to an accident.

The patient must then be examined in a specialist clinic. Repeated seizures may require further changes, such as moving to a quieter environment or changing schools.

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