What is Ohtahara Syndrome?

Ohtahara syndrome is a fairly rare form of epilepsy. It's also known as Early Infantile Epileptic Encephalopathy with Burst-Suppression (EIEE), or Early Myoclonic Encephalopathy (EME). Symptoms of this disorder, which causes epileptic seizures and neural degeneration, often begin before infants are ten days old, and some babies have even experienced seizure symptoms while still in the womb. While Ohtahara syndrome is considered extremely uncommon, it usually carries a poor prognosis. Its effects can be quite severe, and most sufferers do not survive to reach adolescence.

Experts cannot pinpoint the origins of Ohtahara syndrome, but this disorder is sometimes linked to structural abnormalities in the brain, or to metabolic disorders. Ohtahara syndrome is not a specific disease process. Sufferers typically display the same symptoms and experience the same cognitive, developmental, and physical impairments, but the cause of disease can vary widely on an individual basis. Ohtahara syndrome is usually more difficult to treat when it results from structural abnormalities in the brain, rather than from a metabolic disorder.

The symptoms of this disorder usually appear very early. Most babies will experience their first symptoms in the first days of life, and all are expected to display symptoms before they are three months old. Some babies are believed to experience their first symptoms before birth, while still in the womb.

Ohtahara syndrome causes epileptic seizures, which may occur independently or in clusters. Seizure patterns may be present, and may appear or disappear with the passage of time. Treatment often does little to improve the frequency or severity of the seizures associated with this syndrome.

Additional symptoms can include lack of a strong suck reflex in the newborn, as well as a general lack of muscle strength in the newborn. Children may develop problems with the swallow reflex and with the respiratory reflex, leading to breathing problems. These children are also considered vulnerable to acid reflux.

Children with Ohtahara syndrome often don't survive childhood. Many die as infants. Neural degeneration typically occurs with this syndrome, and the damage is often progressive. As patients grow, they normally experience severe developmental delays, learning disabilities, and delayed formation of motor skills. Seizures generally occur more often as neural degeneration progresses.