ohtahara syndrome or ealy infantile epileptic encephalopathy is a rare cause of epileptic seizures during infancy and represents the earliest type of age related symptomatic generalized epilepsies. the main etiologic factor associated with ohtahara syndrome is cerebran dysgenesis. this case was the product of in vitro fertilization (ivf) after 18 years of infertility . neuroimaging findings con...

Ketogenic diet has been shown to be efficacious in some epileptic encephalopathies but rarely reported as being useful in children with Ohtahara syndrome. This could possibly be attributed to the rarity of the disease and associated short survival period. We report on a 5-year-old child with Ohtahara syndrome, whose seizures failed to improve with all known medications, continued to show persis...

By Jules C Beal MD (Dr. Beal of Albert Einstein College of Medicine has no relevant financial relationships to disclose.) Koshi A Cherian MD (Dr. Cherian of Albert Einstein College of Medicine has no relevant financial relationships to disclose.) Solomon L Moshe MD (Dr. Moshe of Albert Einstein College of Medicine received honorariums from UCB as a member of a data and safety monitoring board.)...

STXBP1 HAPLOINSUFFICIENCY IN EARLY ONSET EPILEPTIC ENCEPHALOPATHY Early onset epileptic encephalopathies that occur in very early childhood are rare but particularly catastrophic forms of epilepsy that are invariably associated with significant neurological morbidity (Nordli, 2012). Mutations in the Syntaxin Binding Protein 1 (STXBP1) gene have been linked with two distinct but related forms of...

Key-words Disease name / synonyms Definition / diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counselling Treatment Unresolved questions References Abstract Early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome is the earliest form of agedependent encephalopathies, which include also West syndrome and Lennox-Gastau...

The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.