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Case 10 Presentation

Case 10 Presentation. Widagdo , Diah Siregar , Eka Chandra, Zeti Harriyati. History of Illness. Male 38 yrs old, right handed. Antiviral treatment (acyclovir) was given. Family history: Several antecedents has deafness & DM in maternal lineage. Additional Examination. CT Scan

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Case 10 Presentation

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  1. Case 10 Presentation Widagdo, DiahSiregar, Eka Chandra, ZetiHarriyati

  2. History of Illness Male 38 yrs old, right handed Antiviral treatment (acyclovir) was given

  3. Family history: Several antecedents has deafness & DM in maternal lineage Genetic Counseling, FMDU

  4. Additional Examination • CT Scan • Low density area at parietal lobe • MRI • Cortical and subcortical hyperintensities unilaterally at right parietal and temporo-occipital lobes • Diffuse atrophy of the cerebellar cortex • LCS • Looks clear yet plasma and LCS lactic acid are elevated • Muscle biopsy • Many red ragged fibers (RRF), mostly positive for COX activity • Ictal Record • High amplitude, rhytmic sharp waves at right parieto-temporo-occipital region  high amplitude, slow waves background Explains right parieto-temporal syndrome: Left hemiparesis, Hypoaesthesia, Left homonymous hemianopia, Topographical disorientation, SNHL Partial seizures with secondary generalization

  5. Differential Diagnosis • MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome) • MERRF (Myoclonic epilepsy and ragged-red fibers) • Kearns Sayre Syndrome

  6. N Engl J Med 2003;348:2656-68 Genetic Counseling, FMDU

  7. Further Investigations • PCR-RFLP to find out the mtDNA mutation from blood sample J Korean Med Sci 2002; 17: 103-12

  8. Further Investigations • PCR-RFLP to find out the mtDNA mutation from blood sample J Korean Med Sci 2002; 17: 103-12

  9. Final Diagnosis • PCR-RFLP to find out the mtDNA mutation from blood sample Final Diagnosis  MELAS J Korean Med Sci 2002; 17: 103-12

  10. Therapy  No definite drug Molecular Genetics and Metabolism 2010;99:246–55 Mitochondrion 2007;7:133–9

  11. Genetic Counseling  Nightmare Recurrence risk  finding threshold???  general threshold??? Genetic Counseling, FMDU

  12. Genetic Counseling  Nightmare Reccurence risk  finding threshold???  Quantitative RT-PCR Clinica Chimica Acta 390 (2008) 126–133 Clinical Chemistry 2004;50(6):996-1001 Genetic Counseling, FMDU

  13. Thank You Feedbacks are expected Genetic Counseling, FMDU

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