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