Ohtahara syndrome

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Classification according to ICD-10
G40.3 Generalized idiopathic epilepsy and epileptic syndromes
ICD-10 online (WHO version 2019)

The ohtahara syndrome , also known under the synonyms burst suppression-epileptic Early infantile encephalopathy with and Early Infantile Epileptic Encephalopathy , is a documented with only about 200 worldwide cases extremely rare form of epilepsy that occurs in newborns with seizures associated whose cause usually lies in damage to the brain tissue.

The syndrome was named after the Japanese neuropediatrician and epileptologist Shunsuke Ohtahara ( 大田 原 俊 輔 ), who published the first description in 1976 in collaboration with some colleagues.

features

Ohtahara syndrome is usually caused by a serious developmental disorder or damage to the entire brain or individual parts of it.

Girls and boys can be equally affected.

In children with this peculiarity, signs of a brain dysfunction can be seen comparatively shortly after birth .

In addition, muscle hypotonia (= a reduction in muscle tension) is noticeable in them . B. makes it noticeable that the children cannot hold their heads according to their age.

In the course of the first three months, often even within the first ten days after the birth, epileptic seizures develop, which can vary from child to child. Tonic seizures (Greek: tone = tension) are most common and manifest themselves in severe muscle spasms in several areas of the body and last for up to a minute. Also clonic seizures (Greek: klonos = violent movement) in which rhythmic twitching of one or more extremities occur in generally intact consciousness, myoclonic seizures, where extremely short arrhythmic contractions with intact consciousness occur, complex partial seizures in which consciousness disorders up to several minutes in length, and atypical absences in which the consciousness is reduced when the reaction to z. B. Speech over a period of about one minute is slightly restricted, can occur.

diagnosis

The developmental disorder of the entire brain or individual parts of it can be demonstrated by the examination using magnetic resonance tomography (MRT or MRI), in which the brain tissue damage can be determined through the resulting images.

The epileptic seizures are detected by an electroencephalogram (EEG), by means of which the electrical functions of the nerve cells in the brain can be observed: Corresponding derivations of the voltages in the brain of those affected show a suppression burst pattern in both awake and sleeping children comparatively short bursts of spasmodic peaks of high voltage discharge with subsequent phases of very low electrical activity), whereby epilepsy can be classified.

treatment

Ohtahara syndrome is incurable, so treating symptoms is the only therapy. Many children with Ohtahara syndrome die in the course of their first year of life because most of the epileptic seizures cannot be controlled with medication (= therapy resistance). Treatment with ACTH (= adrenocorticotropic hormone) only brought about improvement in comparatively few children .

forecast

Ohtahara syndrome turns into West syndrome (BNS cramps) in 75% of children within the fourth to sixth month after birth and in some between the ages of two to eight years of age it turns into Lennox-Gastaut syndrome .

Affected children tend to lag behind in their psychomotor and cognitive development compared to children of the same age without impairment. Nevertheless, it is not possible to say in general how a child will develop, especially since the prognosis is also related to the nature of the causal brain dysfunction and the extent to which it is present.

Differential diagnosis

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

Web links

literature

  • S. Ohtahara: Clinico-electrical delineation of epileptic encephalopathies in childhood. In: Asian Med. (1978); J; 21, pp. 499-509.
  • S. Ohtahara: Seizure disorders in infancy and childhood. In: Brain Dev. 1984; 6, pp. 509-519.
  • S. Ohtahara, T. Ishida, E. Oka, Y. Yamatogy, H. Inoue: On the specific age-dependent epileptic syndromes: the early-infantile epileptic encephalopathy with suppression-burst. In: No To Hattatsu. (1976); 8, pp. 270-280.
  • S. Ohtahara, Y. Ohtsuka, Y. Yamatogi, E. Oka: The early-infantile epileptic encephalopathy with suppression-burst: developmental aspects. In: Brain Dev. (1987); 9, pp. 371-376.
  • O. Debus, T. Krasemann, R. Sträter, D. Wieczorek, G. Kurlemann: Blockade of the NMDA receptor in Ohtahara syndrome. In: Clinical Pediatrics. (2000); 212, p. 48.
  • O. Debus, J. Schellscheidt, R. Sträter, et al .: Successful use of dextromethorphan in Ohtahara syndrome. In: Monthly Pediatrics. (1999); 147.898A
  • T. Krasemann, S. Hoovey, J. Uekoetter, H. Bosse, G. Kurlemann, OM Debus: Early infantile epileptic encephalopathy (Otahara syndrome) after maternal electric injury during pregancy: etiologial considerations. In: Brain Dev. (2001); 23, p. 359.
  • Rima Nabbout: Early infantile epileptic encephalopathy. orpha.net 2004 PDF (English)