Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes Mimicking Occipital Idiopathic Epilepsy

Elisabetta Cesaroni, Marina Scarpelli, Nelia Zamponi, Gabriele Polonara, Massimo Zeviani

Research output: Contribution to journalArticle

Abstract

We report on a 19-year-old man with a 9-year history of occipital seizures characterized by deviation of the eyes and tonic ipsilateral turning of the head during sleep, initially diagnosed as idiopathic childhood occipital epilepsy, Gastaut type. The eventual development of status epilepticus, associated with a T1 hypointense as well as T2, fluid-attenuated inversion recovery, and diffusion-weighted hyperintense brain lesion led to pathologic and genetic testing that identified a A3243G mitochondrial DNA point mutation associated with mitochondrial, encephalomyopathy, lactic acidosis, and strokelike episodes. This case emphasizes that occipital epileptic seizures can be the only presenting and long-lasting sign in patients with mitochondrial, encephalomyopathy, lactic acidosis, and strokelike episodes.

Original languageEnglish
Pages (from-to)131-134
Number of pages4
JournalPediatric Neurology
Volume41
Issue number2
DOIs
Publication statusPublished - Aug 2009

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ASJC Scopus subject areas

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

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