التفاصيل البيبلوغرافية
| العنوان: |
Mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome (MELAS): a case report, presentation, and management. |
| المؤلفون: |
Patel IB; Department of Family and Community Medicine, 1005 Dr. D. B. Todd Jr. Boulevard, Nashville, TN, USA. ipatel@mmc.edu, Sidani M, Zoorob R |
| المصدر: |
Southern medical journal [South Med J] 2007 Jan; Vol. 100 (1), pp. 70-2. |
| نوع المنشور: |
Case Reports; Journal Article |
| اللغة: |
English |
| بيانات الدورية: |
Publisher: Southern Medical Association Country of Publication: United States NLM ID: 0404522 Publication Model: Print Cited Medium: Print ISSN: 0038-4348 (Print) Linking ISSN: 00384348 NLM ISO Abbreviation: South Med J Subsets: MEDLINE |
| أسماء مطبوعة: |
Original Publication: Birmingham, AL : Southern Medical Association |
| مواضيع طبية MeSH: |
MELAS Syndrome*/complications , MELAS Syndrome*/diagnosis , MELAS Syndrome*/genetics , Mutation*, DNA, Mitochondrial/*genetics, Adult ; Biopsy ; Diagnosis, Differential ; Electroencephalography ; Fatal Outcome ; Female ; Humans ; Intellectual Disability/etiology ; Muscle, Skeletal/pathology |
| مستخلص: |
Mitochondrial encephalopathy with lactic acidosis and stroke-like syndrome (MELAS) is a progressive neurodegenerative disorder frequently complicated by diabetes mellitus and sensory neuronal hearing loss. This syndrome tends to present initially with stroke-like symptoms. These strokes are nonvascular in nature and are linked to mitochondrial defect such as transient oxidative phosphorylation dysfunction, which in turn results in encephalopathy. The combination of lactic acidosis, multiple nonvascular strokes, encephalopathic psychosis, diabetes, and sensory neuronal hearing loss causes severe dysfunction leading to increased mental disabilities, physical disabilities, and eventually, death. |
| المشرفين على المادة: |
0 (DNA, Mitochondrial) |
| تواريخ الأحداث: |
Date Created: 20070203 Date Completed: 20070215 Latest Revision: 20111117 |
| رمز التحديث: |
20231215 |
| DOI: |
10.1097/01.smj.0000223691.66759.8f |
| PMID: |
17269531 |
| قاعدة البيانات: |
MEDLINE |
Full Text Finder