9th Medical Genetic CourseCenter for Biomedical Researh (CEBIOR), Diponegoro University, Semarang, IndonesiaIn collaboration with Radboud University of Nijemegen, Medical Centre (RUNMC), The Netherlands

History of IllnessMale 38 yrs old, right handed

Antiviral treatment(acyclovir) was given

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Family history:Several antecedents has deafness & DM in maternal lineage

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

Explains right parieto-temporal syndrome: Left hemiparesis,

Hypoaesthesia, Left homonymous hemianopia, Topographical

disorientation, SNHL

• Ictal Record – High amplitude, rhytmic sharp

waves at right parieto-temporo-occipital region high amplitude, slow waves background

Partial seizures with secondary generalization

Differential Diagnosis

• MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome)

• MERRF (Myoclonic epilepsy and ragged-red fibers)

• Kearns Sayre Syndrome

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N Engl J Med 2003;348:265

6-68

Further Investigations • PCR-RFLP to find out the mtDNA mutation from blood sample

J Korean Med Sci 2002; 17: 103-12

Further Investigations • PCR-RFLP to find out the mtDNA mutation from blood sample

J Korean Med Sci 2002; 17: 103-12

Final Diagnosis • PCR-RFLP to find out the mtDNA mutation from blood sample

J Korean Med Sci 2002; 17: 103-12

Final Diagnosis MELASFinal Diagnosis MELAS

Therapy No definite drug

Molecular Genetics and Metabolism 2010;99:246–55

Mitochondrion 2007;7:133–9

Genetic Counseling NightmareRecurrence risk finding threshold??? general threshold???

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Genetic Counseling NightmareReccurence risk finding threshold??? Quantitative RT-PCR

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Clinica Chimica Acta 390 (2008) 126–133Clinical Chemistry 2004;50(6):996-1001

9th Medical Genetic CourseCenter for Biomedical Researh (CEBIOR), Diponegoro University, Semarang, IndonesiaIn collaboration with Radboud University of Nijemegen, Medical Centre (RUNMC), The Netherlands

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