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Title Affection of central nervous system in MELAS syndrome
Authors Smorodska, O.
Shandyba, I.
Bileckiy, P.
Moskalenko, Roman Andriiovych  
Loboda, Andrii Mykolaiovych  
Romaniuk, Anatolii Mykolaiovych  
Keywords синдром MELAS
MELAS syndrome
гостре порушення мозкового кровообігу
острое нарушение мозгового кровообращения
acute cerebrovascular accident
Type Conference Papers
Date of Issue 2017
Publisher Karger Publishers
Citation Affection of central nervous system in MELAS syndrome [Text] / O. Smorodska, I. Shandyba, P. Bileckiy [et al.] // 26th European Stroke Conference, 24-26 May 2017. - Berlin: Karger Publishers. - S. 38.
Abstract The problem of acute cerebrovascular accident (ACVA) has enormous socio-economic importance due to its significant prevalence. Since the ACVA have clinical and pathogenetic polymorphism, problem of differential diagnosis of diseases that mimic their clinic raised up. This problem was illustrated by the clinical case we present.Difficulty of differential diagnostic illustrated by case with patient who initially hospitalized with a diagnosis of ACVA, but later during dynamic monitoring and additional examinations diagnosis of MELAS syndrome was found. Aim: differential diagnosis of rare mitochondrial disease and acute cerebrovascular accident. Patients & Methods. Women, 54 years, come to the emergency room in hospital with stroke-like episode. Due to the local protocol she was examined with laboratory analysis, MRI of cerebri with vessels, CT and MRI of spine, EEG, consultation of ophthalmologist. Also were made analysis for cuprum, cerruloplasmine,homocysteine, transferrine, ferrum, lactate and biopsy of muscular tissues. Results: During neurological examination symptoms of ACAV were not found. MRI of the basal nuclei (mostly in globi pallidi) of the brain were found irregular symmetrical focuses (size 14x18 mm) without clear contours, with slightly increased intensity in T1 mode and low signal intensity on T2 mode. Bilateral in subcortical areas of white matter were found sites of gliosis (size 3x3,2 mm) in both frontal-parietal areas. In the vessels of the brain changes were not found. In analysys of blood serum were found normal levels of copper, ceruloplasmin, homocysteine and ferrum. However, moderate increase in lactate levels were observed. Within EEG epileptic activity was not found. A biopsy of muscle tissue revealed the phenomenon of "ragged red fibers" (severity score of 3-4), a sharp decrease in glycogen during the PAS-reaction. According to the results of examination of the patient were excluded ACVA (hemorrhagic and embolic), Wilson's disease, migraine and epilepsy. Biopsy showed the presence of muscle mitochondrial disease. Conclusion. Increased levels of lactate in the blood serum, the presence of the phenomenon of "ragged red muscle fibers" and found neurological symptoms indicate a reasonable suspicion about the presence of the MELAS syndrome. This case is also valuable because of the late manifestation of the MELAS syndrome (at the age of 54), that creates additional complexity of diagnosis.
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