This is a very rare epilepsy syndrome. Seizures start before 3 months of age. Most babies have an underlying structural brain abnormality. This may be genetic in origin (passed on through the genes), or happen because of brain damage before or around the time of birth.
Other names for Ohtahara syndrome
- Early infantile epileptic encephalopathy with suppression bursts
Seizures often start in the first 10 days of life. Sometimes the mother may realise her baby was having seizures during the last 3 months of pregnancy, when she sees her baby having seizures after birth. Seizure types are variable, but often include tonic spasms, where the baby suddenly has stiffening of the limbs lasting a few seconds. They will also have focal (partial) motor seizures with jerking of one limb, or one side of the body, lasting seconds to several minutes. Generalised seizures may happen later. After several months, seizures may change to infantile spasms (West syndrome).
A full account of what happens during the seizures is essential for the doctors making the diagnosis.
The EEG test, which records the electrical activity in the brain, is usually abnormal and shows evidence of abnormal discharges, or spikes and waves alternating with periods of looking flat and featureless. This type of record is referred to as suppression-burst.
Epilepsy Action has more information on diagnosis.
The seizures are often resistant to epilepsy medicines. The choice of medicine is difficult, but often some of the older medicines, such as phenobarbital, are tried first. Other medicines that may be effective include clobazam (Frisium), clonazepam (Rivotril) or vigabatrin (Sabril). Some babies with a focal (in one area only) structural brain abnormality seen on a magnetic resonance imaging (MRI) scan may be able to have epilepsy surgery to remove the abnormal area of brain.
If your child has this syndrome they may have prolonged or repeated seizures. Your child’s doctor will discuss a ‘rescue’ or emergency care plan with you to treat any prolonged or repeated seizures.
There may be research studies open that are relevant to this epilepsy syndrome. Your child’s doctor will be able to discuss this with you.
Information about treatments for children can be found on the Medicines for Children website.
Affected babies do not behave normally. They are very floppy and excessively sleepy (described as an encephalopathy) and often have difficulty with feeding. With time they may develop stiffness (spasticity) in the limbs. They also make very little developmental progress and remain totally dependent. They often feed poorly. Sadly, they often die within the first two years of life, because of complications, including repeated chest infections. Those who do survive are usually severely disabled and will continue to have seizures despite treatment.
Together for Short Lives
Helpline: 0808 8088 100
What is a syndrome?
A syndrome is a group of signs and symptoms that, added together, suggest a particular medical condition. In epilepsy, examples of these signs and symptoms would be things like the age at which seizures begin, the type of seizures, whether the child is male or female and whether they have physical or learning disabilities, or both. The results of an electroencephalogram (EEG) are also used to help identify epilepsy syndromes.
If you would like to know more about an epilepsy syndrome, please speak to your doctor. If you would like to know more about epilepsy in general, please contact Epilepsy Action.
Epilepsy Action would like to thank Drs Richard Appleton and Rachel Kneen (at Alder Hey Children’s Hospital, Liverpool) and Stewart Macleod (at Yorkhill Children’s Hospital, Glasgow), consultants who specialise in children’s epilepsy, who have updated this fact sheet.