TY - JOUR
T1 - Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes Mimicking Occipital Idiopathic Epilepsy
AU - Cesaroni, Elisabetta
AU - Scarpelli, Marina
AU - Zamponi, Nelia
AU - Polonara, Gabriele
AU - Zeviani, Massimo
PY - 2009/8
Y1 - 2009/8
N2 - 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.
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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U2 - 10.1016/j.pediatrneurol.2009.02.018
DO - 10.1016/j.pediatrneurol.2009.02.018
M3 - Article
C2 - 19589463
AN - SCOPUS:67649611179
VL - 41
SP - 131
EP - 134
JO - Pediatric Neurology
JF - Pediatric Neurology
SN - 0887-8994
IS - 2
ER -