La Revue de medecine interne · 2002
[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (Melas) associated with a Fahr disease and cerebellar calcifications].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Younes-Mhenni S, Thobois S, Streichenberger N, Giraud P, Mousson-de-Camaret B, Montelescaut M E, Broussolle E, Chazot G
Аннотация
INTRODUCTION: Melas syndrome is a mitochondrial disease which corresponds to the association of mitochondrial encephalopathy, lactic acidosis and stroke-like espisodes.
CASE REPORT: The authors report the case of a 39 year-old woman presenting with hearing loss, seizures, visual field deficit, three stroke-like episodes and calcifications of the basal ganglia and cerebellar dentate nuclei. Melas syndrome was suspected and confirmed by muscle biopsy, showing ragged red fibers and the presence of an A3243G mutation of mitochondrial DNA.
CONCLUSION: This clinical, pathological and radiological observation shows that intracerebral calcifications may involve the dentate nuclei of the cerebellum in the Melas syndrome.
CASE REPORT: The authors report the case of a 39 year-old woman presenting with hearing loss, seizures, visual field deficit, three stroke-like episodes and calcifications of the basal ganglia and cerebellar dentate nuclei. Melas syndrome was suspected and confirmed by muscle biopsy, showing ragged red fibers and the presence of an A3243G mutation of mitochondrial DNA.
CONCLUSION: This clinical, pathological and radiological observation shows that intracerebral calcifications may involve the dentate nuclei of the cerebellum in the Melas syndrome.