| Childhood MELAS syndrome presenting with seizure and cortical blindness: a case report. | |
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MedLine Citation:
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PMID: 9884447 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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An 11-year-old boy presented with seizure and cortical blindness. A T1 weighted magnetic resonance image of the brain showed high signal intensity in the bilateral corpus striatum and long T1 and T2 changes in the bilateral occipital and cerebellar hemispheric regions. Increased cerebrospinal fluid lactate concentration of 56.7 mg/dl and blood lactate concentration of 34.2 mg/dl were also noted. A muscle biopsy obtained from the quadriceps femoris muscle showed the presence of ragged red fibers and mitochondrial DNA (mtDNA) analysis showed an A-->G mutation at nucleotide position 3243. MtDNA analysis of the patient's mother revealed the same mutation. These findings indicated MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes). |
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Authors:
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A M Liu; S C Mak; C R Tsai; C S Chi |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Zhonghua yi xue za zhi = Chinese medical journal; Free China ed Volume: 61 ISSN: 0578-1337 ISO Abbreviation: Zhonghua Yi Xue Za Zhi (Taipei) Publication Date: 1998 Dec |
Date Detail:
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Created Date: 1999-01-21 Completed Date: 1999-01-21 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0005327 Medline TA: Zhonghua Yi Xue Za Zhi (Taipei) Country: TAIWAN |
Other Details:
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Languages: eng Pagination: 730-5 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Tung General Hospital, Sha Lu, Taichung, Taiwan, ROC. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Blindness, Cortical
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etiology* Child DNA, Mitochondrial / analysis Humans MELAS Syndrome / diagnosis* Male Seizures / etiology* |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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