We describe a 60 years-old patient presenting with late onset myoclonic seizures, progressive neurological impairment and mental deterioration. Neurophysiological investigations showed marked photosensitivity, a startle reaction, a cortical-subcortical myoclonus. Biochemical study on muscle and skin biopsy was consistent with mitochondrial encephalomyopathy.
Late onset myoclonic epilepsy in a patient with mitochondrial encephalomyopathy: A clinical, polygraphic and biochemical study | [Epilessia mioclonica a esordio tardivo in un caso di encefalopatia mitocondriale: Studio clinico, poligrafico e biochimico] / P., Riguzzi; G., D'Orsi; Meletti, Stefano; R., Rizzi; G., Rubboll; L., Monari; A., Zaniboni; C. A., Tassinari. - In: BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA. - ISSN 0394-560X. - STAMPA. - 106-107:(1999), pp. 249-250.
Late onset myoclonic epilepsy in a patient with mitochondrial encephalomyopathy: A clinical, polygraphic and biochemical study | [Epilessia mioclonica a esordio tardivo in un caso di encefalopatia mitocondriale: Studio clinico, poligrafico e biochimico]
MELETTI, Stefano;
1999
Abstract
We describe a 60 years-old patient presenting with late onset myoclonic seizures, progressive neurological impairment and mental deterioration. Neurophysiological investigations showed marked photosensitivity, a startle reaction, a cortical-subcortical myoclonus. Biochemical study on muscle and skin biopsy was consistent with mitochondrial encephalomyopathy.
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