Ohtahara syndrome

Overview

Type of disease: Rare conditions

Ohtahara syndrome, also known as Early Infantile Epileptic Encephalopathy with Burst Suppression (EIEE), is a rare disorder that causes seizures in newborns, typically within the first three months of life. A baby with this condition may experience tonic seizures (seizure in which limbs suddenly stiffen), partial seizures (seizure that affects one side of the brain), and occasionally myoclonic seizures (seizure that causes short, jerk like movements). Many babies and children with this condition also experience delays in reaching developmental milestones, such as rolling over, walking and talking. Additionally, babies may be unusually sleepy, have difficulty feeding, and remain dependent on others. Ohtahara syndrome is considered a progressive condition, meaning the symptoms get worse over time.

The cause of this condition is unknown. However, many cases of Ohtahara syndrome are seen in babies and children with significant underdevelopment of part of the brain (atrophy). Mutations in many different genes have been identified as the cause in some cases of the condition. In order to diagnose this condition, the doctor will perform a physical exam and gather a detailed history of the child’s seizures. Since seizures are caused by abnormal electrical activity in the brain, an electroencephalogram (EEG) test will be used to measure the brain’s electrical activity. Typically, individuals with Ohtahara syndrome show high voltage spikes followed by little brain activity (known as burst suppression) on an EEG. Treatment options are often limited because the seizures are often resistant to anti-epilepsy medication. In some cases, surgery or therapies may be an option. This is a very serious condition and, if your child has this diagnosis, it is helpful to speak with a doctor or therapist to gain additional information and support.

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