Ohtahara syndrome

The Ohtahara syndrome, also known under the synonyms Early infantile epileptic encephalopathy with suppression -burst and Early Infantile Epileptic Encephalopathy, is one with only about 200 documented worldwide cases extremely rare feature that occurs in the neonatal period and is associated with epileptic seizures, which is usually a brain dysfunction (damage to the brain tissue ) is.

Was named the syndrome after the Japanese epileptologists Shunsuke Ōtahara (大田 原 俊 辅), which with some colleagues in 1976 performed the first description in cooperation.

Features

The Ohtahara syndrome is caused usually by a severe developmental disorder of the entire brain or individual parts of it.

Girls and boys can be equally affected.

In children with this feature already show comparatively short time after the birth signs of brain dysfunction.

Furthermore, among them a hypotonia ( = a reduction of muscle tension ) striking, for example, to thus becomes apparent that the children can not keep their heads according to their age.

During the first three months, often within the first ten days after birth, epileptic seizures, which may be different from child to child show. Most frequently tonic seizures show (Greek: tonus = tension ), which manifest themselves in strong muscular cramps in several areas of the body and last for up to a minute. Also clonic seizures (Greek: klonos = violent movement ) in which rhythmic contractions of one or more extremities usually intact consciousness occur, myoclonic seizures, where extremely short arrhythmic contractions with intact consciousness occur, complex partial seizures, in which consciousness disorders occur up to several minutes in length, and atypical absence seizures, in which consciousness with reductions in response to eg Speech over the period of about one minute is slightly limited, can occur.

Diagnosis

The developmental disorder of the entire brain or individual parts thereof, are by the study using magnetic resonance imaging (MRI or MRI) demonstrated, in which the Hirngewebsschädigungen can be detected by the resulting images.

The epileptic seizures are detected by an electroencephalogram (EEG ), the electrical functions of the neurons can be observed in the brain by the: Corresponding derivatives of the voltages in the brain of affected patients in both waking and in sleeping children a suppression-burst pattern ( = relatively short surges of high voltage spikes typical convulsive discharge with subsequent phases of very low electrical activity ), which can be classified epilepsy.

Treatment

The Ohtahara syndrome is not curable, so that the treatment of the symptoms is the only therapy. Many children with Ohtahara syndrome die during the first year of life, as the epileptic seizures mostly not be set with drugs ( = resistance to therapy ). Only in relatively few children brought the treatment with ACTH ( adrenocorticotropic hormone = ) improvement.

Forecast

The Ohtahara syndrome is at 75 % of the children within the fourth to sixth month after birth in the West syndrome ( BNS convulsions) and some at the age of two to eight years on in the Lennox -Gastaut syndrome.

Affected children remain in comparison to age-matched children without impairment usually very clear in its psychomotor and cognitive development back. Nevertheless, it can not be said lump sum, as a child develops, especially as the forecast in connection with it is, the nature of the causative brain dysfunction, and to what extent it is available.

Differential Diagnosis

It is estimated that about 0.2 % of children with early childhood epilepsy have the Ohtahara syndrome. Before the diagnosis following differential diagnoses should be checked:

• Severe infantile myoclonic epilepsy
• West syndrome
• Lennox -Gastaut syndrome