MELAS syndrome


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  Notes
 
 
Slide 1 : MELAS Syndrome: the role of the otologist Petros Karkos, AFRCSI Murray Waldron, FRCS Ian Johnson, FRCS
Slide 2 : MELAS M itochondrial cytopathy E ncephalopathy LA ctic acidosis S troke-like episodes AND… SNHL
Slide 3 : WHY? Early diagnosis Succesful Rehabilitation
Slide 4 : PATHOPHYSIOLOGY A POINT MUTATION of mt-DNA > 16 in 100,000 ATROPHY OF THE STRIA VASCULARIS
Slide 5 :
Slide 6 : CLINICAL FEATURES CARDINAL FREQUENT( SNHL) OTHER SNHL is frequent (44-75%) ( Hirano et al, Chinnery et al)
Slide 7 : DIAGNOSIS HIGH INDEX OF SUSPICION COMBINATION OF FEATURES: Myopathy& CNS involvement GENETIC TESTS: A3243G mutation MUSCLE Bx: ragged-red fibres
Slide 8 : TREATMENT MULTIDISCIPLINARY Tx: 1)GUIDANCE ABOUT THE FUTURE 2)REGULAR F.Ups 3)INTERVENTION ANAESTHETIC CONSIDERATIONS
Slide 9 : HEARING LOSS
Slide 10 : CONCLUSION ALL MELAS MUST BE SCREENED ALL MELAS MUST BE FOLLOWED UP OTOLOGIST NEEDS TO BE PART OF THE MELAS TEAM

 



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