Otahara syndrome in 2001 was included in the list of diseases that are characterized by increased epileptic activity, as well as epileptiform disorders in electroencephalogram parameters. Such violations provoke a progressive deterioration in the functioning of the brain. In the same 2001, the hypothesis of the same name was adopted, suggesting that in the vast majority of cases Otahara syndrome is observed with transformation into West syndrome. There were also cases when, in the future, the pathology developed into the Lennox-Gastaut syndrome.
Description
Markand-Blume-Otahara syndrome is the initial stage in 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 the child's life. In some casesthe syndrome can manifest itself immediately after the birth of the child. Genetic diseases can cause the development of metabolic disorders, which ultimately leads to the manifestation of the syndrome in an acute form against the background of good he alth.
Reasons
Physicians tend to believe that the most likely cause of the development of Otahara syndrome in children are disorders in the formation of the brain, such as porencephaly, unilateral megalencephaly, etc. In some cases, failures in metabolic processes, such as mapping disorders, lead to pathology.
For a personalized study, Otahar considered ten cases. As a result, it was possible to determine that two patients had a cyst in one of the hemispheres of the brain, which is characterized as porencephaly. Two more patients had Aicardi syndrome, as well as subacute mixed encephalopathy. This led to changes in the brain tissues of a dystrophic nature and, as a result, to a violation of the functions of the brain. In the remaining 6 patients, the causes of Otahara syndrome could not be determined.
Another survey looked at 11 newborns. One of them experienced asphyxia during childbirth, the second was diagnosed with a congenital pathology, the development and spread of which was due to disorders at the genetic level. Another child was found to have non-ketone type hyperglycinemia, while the cause of the syndrome could not be identified in the other children. And only one child has epileptic seizureswere similar to the pathology found 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 unilateral megalencephaly, and in one case Aicardi syndrome was observed.
Malformation
Another suggestion about the causes of the development of Otahara's pathology was made in a 1995 article describing epilepsy in childhood. This article talked about malformation as the root cause of the syndrome. A malformation is any deviation from the norm in physical development, as a result of which there are significant disturbances in the functioning 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 often there are cases when disturbances 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 pathology provocateurs are disturbances in the structure of the cerebral hemispheres.
Symptoms
The main features of the pathology, according to the information provided by Aicardi and Otahara, are:
- The disease is typical for children immediately after birth or from ten days of age.
- Types of seizures can vary, but the most common is an excitatory spasm when muscle tension occurs. Spasms appear asdaytime and nighttime.
- Anomalous slowdown in psychotropic formation. Quite often ends with the death of a child at a newborn age.
- Transition of the syndrome to other diseases.
- In the vast majority of cases, the cause of the syndrome is a violation of the brain.
Progressive deterioration
Otahara's syndrome is characterized by a progressive deterioration of the patient's condition. At the same time, attacks become more frequent over time, and psychomotor development slows down significantly. Children with a similar diagnosis remain disabled. Seizures can be either symmetrical or lateral to the cerebral hemispheres. Against the background of the syndrome, other types of seizures can also appear, not only excitatory spasms. The duration of the seizure is 10 seconds, the intervals between seizures are approximately 10-15 seconds.
Children suffering from Otahara 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 to the Lennox-Gastaut syndrome.
Diagnosis
The main diagnostic method for detecting Otahara's 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. Application of thesemethods 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. If these methods detect normal values, the so-called metabolic screening is carried out. This method shows the presence of disturbances in metabolic processes, which can also cause Otahara 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 burst-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 a child has a pattern substitution for hypsarrhythmia, we can talk about the transition of Otahara's syndrome to West's disease. Slow spike-wave activity, in turn, is the main characteristic of Lennox-Gastaut syndrome.
In other cases, Otahara's pathology transforms into a partial variety of epilepsy, which is characterized by increased activity of brain cells in one of the hemispheres.
Neuroimaging involves MRI and CT of the head. Through these studies, it is possible to visualize all changes in the structure. A photo of children with Otahara syndrome is presented below.
Treatment
The effectiveness of any therapy in the case of this syndrome, unfortunately, is very low. As a rule, the basis of therapy is antiepileptic drugs, such as Phenobarbital, also known as Luminal. 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 Otahara syndrome. In 2001, a study was conducted, during which it was possible to identify a positive trend in vitamin B6 therapy. Also, the result of the treatment gave the drug "Zonisamide".
With hemimegalencephaly and cortical dysplasia, you should use the help of neurosurgeons. There is an international protocol for the treatment of Otahara syndrome, which includes Vigabatrin, Sinakten, as well as the introduction of immunoglobulins.
Forecast
Today, unfortunately, there is no effective treatment regimen for the syndrome. More than half of patients with this diagnosis die in the first month of life. Those who managed to survive 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. At the same time, psychomotor development normalizes, however, the prognosis is still unfavorable.
We looked at the main causes of Otahara syndrome.
