Diagnosing MERRF requires clinical and genetic evidence
نویسندگان
چکیده
منابع مشابه
Merrf Syndrome and Refractory Status Epilepticus
MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease maternally-inherited. In this progressive disorder, status epilepticus is common and highly resistant to treatment including generalized anesthesia. We report two cases with Merrf syndrome (sister and brother), presented with status epilepticus refractory even to Thiopental, Propofol and Midazolam. In the s...
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The vast majority of people worldwide experience headache at least once during a lifetime. Several international studies have shown that the lifetime prevalence of headache ranges from 60% to 93% in men and from 82% to 99% among women. One-year prevalence rates by gender vary greatly by country, ranging from 40% to 91% for women and 19% to 84% for men. These dramatic variations in headache prev...
متن کاملHistochemical and molecular genetic study of MELAS and MERRF in Korean patients.
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode (MELAS) and myoclonic epilepsy and ragged-red fibers (MERRF) are rare disorders caused by point mutation of the tRNA gene of the mitochondrial genome. To understand the pathogenetic mechanism of MELAS and MERRF, we studied four patients. Serially sectioned frozen muscle specimens with a battery of histochemical stai...
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متن کاملScotosensitive myoclonic seizures in MERRF.
A 42-year-old woman presented with a history of intractable eye-closure-sensitive myoclonic and grand mal seizures since age 22, resulting in falls and fractures. She also had five episodes of status epilepticus. She denied visual phenomena, eyelid myoclonus, and absence seizures. She had normal cognitive function, but proximal muscle weakness of all extremities. Her EEG revealed eye-closure-in...
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ژورنال
عنوان ژورنال: Polish Journal of Pathology
سال: 2019
ISSN: 1233-9687
DOI: 10.5114/pjp.2019.87106