Ohtahara syndrome is a rare electroclinical epilepsy syndrome with onset in the neonatal period. It is also known as early infantile epileptic encephalopathy (EIEE) or early infantile epileptic encephalopathy with burst suppression pattern. It is named after Shunsuke Ohtahara, the Japanese child neurologist who first described the syndrome in 1976.
Epidemiology
Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K
Pathophysiology
Majority of Ohtahara syndrome patients have an underlying structural abnormality. The associated structural abnormalities include hemimegalencephaly, porencephaly, dentato-olivary dysplasia [Schlumberger et al., 1992], agenesis of the corpus callosum, agenesis of the mamillary bodies [Trinka E et al., 2001], cortical dysplasia and neuronal migration disorders. Ohtahara syndrome has also been reported to be caused by underlying metabolic conditions including nonketotic hyperglycinemia, cytochrome C oxidase deficiency, pyridoxine dependency, carnitine palmitoyltransferase deficiency, Leigh encephalopathy, biotinidase deficiency and mitochondrial respiratory chain complex I deficiency.