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Genetic Diagnosis and Management of MELAS Syndrome in a 38-Year-Old Male Patient

A 38-year-old right-handed male presented with neurological symptoms and history of deafness and diabetes in maternal lineage. He underwent antiviral treatment with acyclovir. Imaging revealed low density areas and hyperintensities in the right parietal and temporo-occipital lobes, alongside diminished cerebellar cortex. Diagnostic tests indicated elevated lactic acid levels and the presence of ragged red fibers in muscle biopsy. Using PCR-RFLP analysis, MELAS syndrome was diagnosed. Genetic counseling recommended due to recurrence risk.

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Genetic Diagnosis and Management of MELAS Syndrome in a 38-Year-Old Male Patient

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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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