title: A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency.
abstract: Ohtahara syndrome (OS) is known as an intractable epileptic syndrome in neonatal and early infantile period, differentiated from early myoclonic encephalopathy (EME) in its etiology. We report a patient with OS associated with mitochondrial respiratory chain complex (MRC) I defect. With ketogenic diet and mitochondrial cocktail therapy, seizures were completely controlled and suppression-burst patterns disappeared 3 months after starting treatment. It is suggested that OS could be caused by specific metabolic disorder such as MRC defect and the intensive therapies including ketogenic diet, vitamin and coenzyme therapy and antioxidant treatment might be helpful for some patients.
authors.affiliation: Department of Pediatrics, Pediatric Epilepsy Clinic, Severance Children's Hospital, Yonsei University College of Medicine, 134, Shinchon Dong, Seodaemun Gu, Seoul 120-749, Republic of Korea. drjoohee@hanmail.net <drjoohee@hanmail.net>
authors.forename: Joo Hee
authors.initials: JH
authors.lastname: Seo
authors.forename: Young Mock
authors.initials: YM
authors.lastname: Lee
authors.forename: Joon Soo
authors.initials: JS
authors.lastname: Lee
authors.forename: Se Hoon
authors.initials: SH
authors.lastname: Kim
authors.forename: Heung Dong
authors.initials: HD
authors.lastname: Kim
mesh_terms: D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis; D018482:Muscle, Skeletal / Q000473:pathology