Early Infantile Epileptic Encephalopathy with Burst Suppression; EIEE

Ohtahara Syndrome (OS) is a rare neurological disorder characterized by onset of seizures within the first three months of life. Infants primarily have tonic seizures, but may also experience partial seizures (also called focal seizures), or myoclonic seizures. OS is most commonly caused by metabolic disorders or structural abnormalities in the brain; although for many cases, the cause cannot be determined.  Most infants with the disorder show significant abnormalities of the cerebral hemispheres. Males are more often affected than females.

Diagnostic testing:

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  EEG shows the characteristic “burst suppression” pattern;

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  Head CT or MRI scan; and

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  Metabolic screening.

Physical findings: Infants with OS often appear excessively sleepy with limited muscle control. As seizures become more frequent, they develop stiffness (spasticity) in the limbs.

ICD-9: 345.11

OS is a very progressive seizure disorder that is associated with high mortality and morbidity. As the disease progresses, seizures become more frequent, accompanied by physical impairments and developmental delay. Some children will die in infancy within weeks or months from onset due to chest infections or pneumonia; others will have severe permanent mental and neurological deficits.

There is no cure for this disorder. Treatment is symptomatic and supportive. Anti-seizure medications are prescribed to control seizures with limited effectiveness. Corticosteroids are occasionally helpful. In cases where there is a focal abnormal area of the brain, surgery may be beneficial.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  EEG with evidence of burst suppression pattern;

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  Imaging studies such as CT or MRI; and

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  Metabolic laboratory studies.

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