Otahara syndrome in 2001 was included in the list of diseases that are characterized by increased epileptic activity, as well as epileptiform disorders in the indicators of the electroencephalogram. Such violations provoke a progressive deterioration in the brain. In the same 2001, the hypothesis of the same name was adopted, suggesting that in the vast majority of cases, Otahar syndrome with transformation into West syndrome is observed. There were also cases when in the future the pathology developed into Lennox-Gastaut syndrome.
Description
Markand-Blume-Otahara syndrome is the initial stage of the development of epileptic type encephalopathy that occurs in newborns during the first months of life. Pathology is manifested by acute attacks that progress over 10 days of a child's life. In some cases, the syndrome can occur immediately after the baby is born. Genetic diseases can cause the development of metabolic disorders, which ultimately leads to the manifestation of the syndrome in acute form against a background of good health.
Causes
Doctors tend to believe that the most likely cause of the development of Otahar syndrome in children is a violation in the formation of the brain, such as porencephaly, megalencephaly of the unilateral type, etc. In some cases, pathologies lead to disruptions in metabolic processes, such as mapping disorders.
For a personalized study, Otahar examined ten cases. As a result, it was possible to determine that two patients had a cyst in one of the cerebral hemispheres, which is characterized as porencephaly. Two more patients had Aikardi syndrome, as well as subacute mixed-type encephalopathy. This led to changes in the brain tissue of a dystrophic nature and, as a result, to a dysfunction of the brain. The remaining 6 patients failed to determine the causes of Otahar syndrome.
In another survey, 11 newborns were examined. One of them experienced asphyxiation during childbirth, the second revealed a pathology of a congenital type, the development and spread of which was due to disorders at the genetic level. Another child was found to have non-ketone type hyperglycemia, while the remaining children failed to identify the cause of the syndrome. And only in one child epileptic seizures were similar to the pathology revealed in close relatives.
Schlumberger also conducted an experiment involving 8 children. All were diagnosed with brain defects. At the same time, 6 children suffered from megalencephaly of a unilateral type, and in one case, Aicardi syndrome was observed.
Malformation
Another suggestion about the causes of the development of Otahar pathology was made in a 1995 article describing childhood epilepsy. This article talked about malformation as the root cause of the syndrome. Malformation is any deviation from the norm in physical development, as a result of which there are significant violations in the work and structure of the brain.
Thus, congenital or received brain injuries or any other diseases of the organ can lead to the development of the syndrome in newborns. Less common are cases when disturbance in metabolic processes became a provocateur of pathology. As a result, on the basis of the information collected during the research, it was generally agreed that disturbances in the structure of the cerebral hemispheres are the provocateurs of pathology.
Symptoms
The main features of the pathology, according to the information provided by Aicardi and Otahara, are:
- The disease is characteristic of children immediately after birth or starting at ten days of age.
- Types of seizures may vary, but the most common is an excitatory spasm when muscle tension occurs. Cramps occur both in the daytime and at night.
- An abnormal slowdown in psychotropic formation. Quite often it ends in the death of a child in a newborn.
- Transition of the syndrome to other diseases.
- In the vast majority of cases, the cause of the syndrome is a disturbance in the brain.
Progressive worsening
Otahara syndrome is characterized by a progressive worsening of the patient's condition. Attacks in this case become more frequent over time, and psychomotor development slows down significantly. Children with a similar diagnosis remain disabled. Attacks can be either symmetrical or lateralized with respect to the cerebral hemispheres. Against the background of the syndrome, other types of seizures can appear, not only excitatory cramps. The duration of the seizure is 10 seconds, the intervals between seizures are approximately equal to 10-15 seconds.
Children suffering from Otahar syndrome are inactive, quite often the disease is accompanied by hypotension. Transformation into West syndrome occurs on average 2-6 months after birth. This transition occurs in every third case out of four. In the future, there is a high probability of the transition of pathology into Lennox-Gastaut syndrome.
Diagnostics
The main diagnostic method for identifying Otahara pathology is neuroimaging. This is a combination of various techniques that make it possible to obtain an image of the structure, functions and properties of the brain from a biochemical point of view. The use of these methods allows you to identify the causes of the development of the syndrome and prescribe the correct treatment.
Neuroimaging helps to detect significant abnormalities in the brain, as well as malformations. In the event that these methods detect normal values, a so-called metabolic screening is performed. This method shows the presence of metabolic disturbances, which can also cause Otahar syndrome.
Interictal electroencephalography
At an early stage of the development of the syndrome, interictal electroencephalography is prescribed. This study tests the response to a high-amplitude flash-suppression pattern. Paroxysmal discharges are separated from each other by a flat curve, its duration is about 18 seconds. The flash-suppression pattern is most often asymmetric and tends to worsen during the rest period. If at 3-5 months of life in a child there is a pattern substitution for hypsarrhythmia, we can talk about the transition of Otahar syndrome to West disease. Slow spike-wave activity, in turn, is the main characteristic of Lennox-Gastaut syndrome.
In other cases, the Otahara pathology is transformed into a partial type of epilepsy, which is characterized by increased activity of brain cells in one of the hemispheres.
Neuroimaging involves an MRI and a CT scan of the head. Through these studies, it is possible to visualize all changes in the structure. Photos of children with Otahar syndrome are presented below.
Treatment
The effectiveness of any therapy in the case of this syndrome, unfortunately, is very low. As a rule, antiepileptic drugs, such as Phenobarbital, also known as Luminal, form the basis of therapy. This drug reduces the number of seizures, but it is not able to stop the delayed formation of the psychomotor factor.
Adrenocorticotropic hormones and calcium antagonists also did not give positive dynamics in the condition of patients with Otahar syndrome. In 2001, a study was conducted, during which it was possible to identify positive dynamics in therapy with vitamin B6. Also, the result of the treatment was given by the Zonisamide preparation.
With hemimegaleencephaly and cortical dysplasia, the help of neurosurgeons should be used. There is an international protocol for the treatment of Otahar syndrome, which includes Vigabatrin, Sinacten, as well as the introduction of immunoglobulins.
Forecast
Today, unfortunately, there is no effective treatment for the syndrome. More than half of patients with this diagnosis die in the first month of life. Those who survived suffer from persistent psychological and neurological underdevelopment. There are cases when it is not even possible to stop epileptic seizures.
In some cases, the syndrome passes into other diseases. The psychomotor development is normalized, however, the prognosis is still unfavorable.
We examined the main causes of Otahar syndrome.