Aim: To report a case of sub-acute encephalopathy with all the extension study negative and with response to steroid therapy.
Case Report: The study involves a 22-year-old female with no relevant past history who presented symptoms of sub-acute encephalopathy consisting in behavioural disorders, generalised seizures and bradypsychia, which gradually progressed to a state of low-level consciousness. While she was in hospital all kinds of diagnostic tests were conducted, the results of which were either normal or negative; the electroencephalogram was repeatedly abnormal and detection of protein 14-3-3 in cerebrospinal fluid was positive.
Introduction: Mitochondrial encephalomyopathies belong to a heterogeneous group of diseases with a range of neurological symptoms caused by a dysfunction somewhere in the nervous system. They may arise from mutations of the mitochondrial DNA or nuclear DNA in the genes that code for the subunits of the respiratory chain. The results obtained from using different drugs to treat these diseases vary widely.
View Article and Find Full Text PDFIntroduction: Chronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. The different conditions in this group of diseases overlap clinically, enzymatically and genetically. There is no effective treatment.
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