Ohtahara

Ohtahara is a rare and severe form of epilepsy that begins in infancy, typically within the first three months of life. It is characterized by frequent, prolonged seizures that often occur in clusters. The seizures can manifest in various ways, including tonic spasms, apnea, and subtle eye or mouth movements. Developmental milestones are usually significantly delayed or absent in children with Ohtahara syndrome, and many experience profound intellectual disability.

The exact cause of Ohtahara syndrome is not fully understood, but it is often associated with structural abnormalities in the brain, such as cortical dysplasia or genetic mutations affecting brain development. In some cases, a specific underlying cause may not be identified. The electroencephalogram (EEG) in infants with Ohtahara syndrome typically shows a characteristic pattern known as a burst-suppression pattern, which consists of brief periods of high-amplitude electrical activity alternating with periods of electrical silence.

Treatment for Ohtahara syndrome is challenging, as the seizures are often resistant to standard antiepileptic medications. Various medications may be tried, but their effectiveness can be limited. Dietary therapies, such as the ketogenic diet, and in some cases, surgical interventions, may be considered to manage the seizures. However, the long-term prognosis for Ohtahara syndrome is generally poor, with significant neurological impairment and a high risk of mortality. The focus of care is often on managing seizures, supporting development, and providing palliative care.