MELAS Syndrome: the role of MELAS Syndrome: the role of the otologistthe otologist
Petros Karkos, AFRCSI
Murray Waldron, FRCS
Ian Johnson, FRCS
MELASMELAS
M itochondrial cytopathyE ncephalopathyLA ctic acidosisS troke-like episodes
AND…
SNHL
WHY?WHY?
Early diagnosisSuccesful Rehabilitation
PATHOPHYSIOLOGYPATHOPHYSIOLOGY
A POINT MUTATION of mt-DNA> 16 in 100,000ATROPHY OF THE STRIA
VASCULARIS
CLINICAL FEATURESCLINICAL FEATURES
CARDINALFREQUENT( SNHL)OTHERSNHL is frequent (44-75%)
( Hirano et al, Chinnery et al)
DIAGNOSISDIAGNOSIS
HIGH INDEX OF SUSPICIONCOMBINATION OF FEATURES:
Myopathy& CNS involvementGENETIC TESTS: A3243G mutationMUSCLE Bx: ragged-red fibres
TREATMENTTREATMENT
MULTIDISCIPLINARY Tx:
1)GUIDANCE ABOUT THE FUTURE
2)REGULAR F.Ups
3)INTERVENTIONANAESTHETIC
CONSIDERATIONS
HEARING LOSSHEARING LOSS
CONCLUSIONCONCLUSION
ALL MELAS MUST BE SCREENED
ALL MELAS MUST BE FOLLOWED UP
OTOLOGIST NEEDS TO BE PART OF THE MELAS TEAM