A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency

Joo Hee Seo, Young Mock Lee, Joon Soo Lee, Se Hoon Kim, Heung Dong Kim

Research output: Contribution to journalArticle

22 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)253-257
Number of pages5
JournalBrain and Development
Volume32
Issue number3
DOIs
Publication statusPublished - 2010 Mar 1

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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