Abstract | INTRODUCTION: CLINICAL CASE: A 33-year-old woman presented with seizures and a right parietotemporal syndrome of acute onset. The differential diagnosis between HSE and MELAS syndrome was established. MELAS syndrome was suspected based on her phenotype. The diagnosis of MELAS syndrome was confirmed by the presence of the mitochondrial tRNALeu(UUR) mutation at the base pair 3243. CONCLUSION:
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Authors | M de Toledo, J Díaz-Guzmán, D A Pérez-Martínez, R A Sáiz-Díaz, A Rodríguez-Vallejo, Y Campos |
Journal | Revista de neurologia
(Rev Neurol)
2001 Jul 16-31
Vol. 33
Issue 2
Pg. 148-50
ISSN: 0210-0010 [Print] Spain |
Vernacular Title | Síndrome MELAS que asemeja una encefalitis por virus herpes: diagnóstico genético. |
PMID | 11562875
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
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Topics |
- Acute Disease
- Adult
- DNA Mutational Analysis
- DNA, Mitochondrial
(genetics)
- Diagnosis, Differential
- Dwarfism
(etiology)
- Encephalitis, Herpes Simplex
(diagnosis)
- Female
- Hearing Loss, Bilateral
(etiology)
- Hearing Loss, Sensorineural
(etiology)
- Hemianopsia
(etiology)
- Humans
- Lymphocytes
(chemistry)
- MELAS Syndrome
(diagnosis, genetics)
- Paresis
(etiology)
- Phenotype
- Point Mutation
- Scoliosis
(etiology)
- Seizures
(etiology)
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