Adineh, M. and Talebian, A. and Koochaki, E. (2010) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Feyz Journal of Kashan University of Medical Sciences, 14.
Full text not available from this repository.Abstract
Background: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a progressive maternally inherited multi-organ disorder caused by a mutation in a mitochondrial gene. In this disorder recurrent migraine headache, seizure, cerebral insults causing hemiparesis, hemianopia, progressive hearing loss and cognitive problems may occur.Case presentation: The patient is a 12-year girl manifested with malaise, tonic-clonic convulsion and unilateral weakness in left upper and lower extremities. Her problem was begun with seizure, headache and recurrent vomiting, 5 months before the admission. On clinical examination cerebrovascular events was diagnosed. On broader diagnostic studies, also a genetic mutation in A3243G gene, as a definite characteristic for the establishment of the disease, was detected by muscle biopsy.Conclusion: Patients suffering from the syndrome gradually display delayed motor and cognitive development. Therapeutic management of the disease consists of administration of multi-vitamins and coenzyme supplementations, and lowering the serum lactate level using dichloroacetate.
| Item Type: | Article |
|---|---|
| Subjects: | Medicine |
| Divisions: | Feyz journal |
| Depositing User: | ART . editor |
| Date Deposited: | 10 May 2017 13:39 |
| Last Modified: | 22 May 2017 14:12 |
| URI: | http://eprints.kaums.ac.ir/id/eprint/1977 |
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