Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes Mimicking Occipital Idiopathic Epilepsy

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

doi:10.1016/j.pediatrneurol.2009.02.018

Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes Mimicking Occipital Idiopathic Epilepsy

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

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	131-134
Number of pages	4
Journal	Pediatric Neurology
Volume	41
Issue number	2
DOIs	https://doi.org/10.1016/j.pediatrneurol.2009.02.018
Publication status	Published - Aug 2009

ASJC Scopus subject areas

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

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title = "Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes Mimicking Occipital Idiopathic Epilepsy",

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.",

author = "Elisabetta Cesaroni and Marina Scarpelli and Nelia Zamponi and Gabriele Polonara and Massimo Zeviani",

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AU - Cesaroni, Elisabetta

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AU - Zamponi, Nelia

AU - Polonara, Gabriele

AU - Zeviani, Massimo

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AB - 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.

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Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes Mimicking Occipital Idiopathic Epilepsy

Abstract

ASJC Scopus subject areas

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