congenital_hearing_loss_astarkweather_3-25-09 hl.ppt

8/18/2019 Congenital_Hearing_Loss_AStarkweather_3-25-09 HL.ppt

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Congenital Hearing Loss

Ashley Starkweather, MD

UCLA Head and Neck SurgeryFebruary 2, 2!!"



#tiology

Congenital HL

!$ %enetic

!$ Ac&uired

Childhood 'nset HL

!$ %enetic

2$ Ac&uired

2$ Unknown



%enetic HL

($ non)syndro*al

2$ syndro*al

($ autoso*al recessi+e A-.

2$ autoso*al do*inant AD.

/)2$ 0)linked

-are *itochondrial



Autoso*al recessi+e HL

Monogenic, 2$

risk to o11sring i1

both arents arecarriers

Se+ere to

ro1ound SNHL, relingual onset



Autoso*al recessi+e syndro*al

HL Usher syndro*e

3endred

4er+el and Lange Nielsen

%oldenhar 'culoauriculo+erterbral

sectru*.



Usher Syndro*e

-etinitis i*entosa and SNHL

Night blindness 5 1ield cut 5 central

blindness

Most co**on cause o1 congenital dea1ness

D67 electroretinograhy



Usher 8yes

8ye 9 *ost co**on.7 3ro1ound SNHL, no +estibular 16n

-3 onset in early childhood Atyical *yosin *yosin (A.7 inter1eres with

*echanoelectrical transduction in labyrinthine haircells

8ye 997 Congenital sloing SNHL

Nor*al +estibular 16n

-3 onset in teens



Usher 8yes

8ye 9997

3rogressi+e SNHL and +estibular dys1unction

:estibulocerebellar ata6ia

8ye 9:7

Mental retardation and hyotonia



Usher



3endred Syndro*e

De1ect in tyrosine iodination

%ene *utation7 a11ects endrin, *olecule in+ol+ed

in chloride)iodine transort S67 se+ere to ro1ound SNHL, *ultinodular goiter

in childhood

Assoc with Mondini *al1or*ation and enlarged

+estibular a&ueduct D67 ;. erchlorate test

867 thyroid hor*one to suress goiter



8rans+erse C8 scans o1

the *iddle ear in a <()

year)old atient with3endred syndro*e=

a. Modiolus is not

discernible short arrow.=

:estibular a&ueductarrowheads. and

+estibule long arrow. are

enlarged=

b. 9nterscalar setu*

between uer and *iddle

turn o1 the cochlea is

absent arrow.=



4er+ell and Lange Nielsen

Congenital ro1ound SNHL

3rolonged >8 inter+al with syncoe,

sudden death

%ene *utation7 ?:?>8/ @ abnor*al ?;

channel

D67 #?%

867 eta blockers, hearing aids



%oldenhar Syndro*e

First and second arch deri+ati+es, he*i1acial

CHL and SNHL *i6ed.

'cular7 eibulbar der*oids, colobo*as

Auricular7 reauricular aendages, inna

abnor*alities, #AC atresia, ossicular

*al1or*ationBabsence, abnor*al 1acial ner+e,staedius, se*icircular canals and o+al window

:ertebral7 1usionBabsence o1 cer+ical +ertebrae



%oldenhar Syndro*e



Autoso*al Do*inant

:ertical attern o1 inheritance

-isk to o11sring o1 !$ i1 / arent a11ected

:ariable enetrance and e6ressi+ity

'1ten ostlingual hearing loss, rogressi+e



AD Syndro*es

aardenburg

8reacher Collins

Aert

Crouon

Stickler

Neuro1ibro*atosis

rancio)oto)renal



aardenburg Syndro*e

Abnor*al tyrosine*etabolis*

3ig*ent abnor*alities7heterochro*ic iriditis,white 1orelock, atchyskin deig*entation

Cranio1acialabnor*alities7 dystoiacanthoru*, synohrys, 1latnasal root



aardenburg 8yes

8ye 97

Dystoia canthoru*, ig*ent and cranio1acial

abnor*alities, 2!$ with SNHL Mutation in 3A0E gene

8ye 997

No dystoia canthoru*, !$ with SNHL butnot as se+ere

M98F *utation



aardenburg 8yes

8ye 999 *ost se+ere.7

Unilateral tosis and skeletal abnor*alities

3A0E *utation

8ye 9:7

8ye 99 lus Hirschsrungs disease

aganglionic *egacolon.



8reacher Collins

Mandibulo1acial dysostosis. Hyolasia o1 *andible and 1acial bones

Downsloing alebral 1issures, colobo*as

Atretic e6ternal and *iddle ear Mi6ed HL

Cle1t alate E$.

%ene *utation on chr &7 8C'F/ codes 1or a celltransort rotein treacle.

867 AHA, bone conduction HA, surgicalcorrection o1 aural atresia



8reacher Collins



Aert Syndro*e

Acrocehalosyndactyly. Middle and inner ear a11ected

Staes 1i6ation CHL., atent cochlear

a&ueduct, large subarcuate 1ossa

Hand syndactyly, *id1ace abnor*alities,

cranio1acial dysostosis, traeoid *outh



Aert



Crouon Syndro*e

cranio1acial dysostosis. Atresia and stenosis o1 #AC, CHL,

ossicular de1or*ities

Cranial synostosis, s*all *a6illa,

e6ohthal*os, arrot nose, short uer li,

*andibular rognathis*, hyerteloris*

Abnor*al F%F recetors



Crouon



Stickler Syndro*e

3rogressi+e Arthro)'hthal*oathy

3rogressi+e SNHL G!$.

Mar1anoid body habitus Se+ere *yoia, retinal detach*ent

Flat *id1ace

Hyer*obile oints 3ierre -obin se&uence7 *icrognathia,

glossotosis, cle1t alate



Neuro1ibro*atosis

NF)/ :on -ecklinghausen Disease. Ca1I au lait sots, neuro1ibro*as, Lisch nodules, $

risk o1 unilateral acoustic neuro*a

NF)/ gene on Chr /(

NF)2 central neuro1ibro*atosis. ilateral acoustic neuro*as or unilateral with /st

degree relati+e with NF)2 or *ultile centralschwanno*as

NF)2 gene Chr 22&/2 tu*or suressor gene*utation.



NF)/



ranchio)oto)renal

Melnick Fraser Syndro*e. -enal abnor*alities7 *ild hyolasia to bilateral

alasia

ranchial cle1t cyts

3reauricular its

#JA/ on Chr G&/E

Hearing loss7

3enetrance7 G!$ Mi6ed7 !$

Conducti+e7 E!$

SNHL7 2!$



0)linked Disorders

Alorts syndro*e

'toalatal)digital

Norrie syndro*e



Alorts Syndro*e

0)linked G!$, autoso*al

do*inant 2!$

3rogressi+eglo*erulonehritis and

SNHL

Abnor*al tye 9:

collagen in %MK gene

C'L<A



Alorts Syndro*e

ilateral degeneration o1 organ o1 Corti and

stria +ascularis

'cular disorders *yoia, cataracts.

D67 UA, UN, Cr

867 dialysis, renal translant



'toalatal)digital

'ssicular *al1or*ation CHL.

3alate de1ects

Digital abnor*alities7 broad 1ingers and

toes

Hyerteloris*, short stature, *ental

retardation



'toalatal)

digital



Norrie Syndro*e

lindness

3rogressi+e *ental retardation

Hearing loss



Mitochondrial Disorders

Follows *aternal line

3ostlingual HL

Associated with syste*ic *etabolic disorders 9ncreased sensiti+ity to a*inoglycoside

ototo6icity

#67 M#LAS7 *itochondrial encehaloath, lactic acidosis,

and strokelike syndro*e

M9DD7 *aternally inherited diabetes and dea1ness



Ac&uired Congenital HL

3renatal7 in1ections, teratogens

3erinatal7 N9CU ad*ission

3ostnatal7 in1ections, neolas*s



3renatal 9n1ections

8'-CHS7

8o6olas*osis

-ubella

CM:

HS: encehalitis

Syhilis



-ubella

Cataracts, cardiac de1ects, HL

Atrohy o1 'rgan o1 Corti,

thro*bosis o1 stria +ascularis,

loss o1 hair cells, endoly*hatichydros

Ane*ia, *etal retardation, L#

de1or*ities, *icrocehaly,

thro*bocytoenia

D67 culture +irus 1ro* urine,

throat or a*niotic 1luidK

antirubella 9gM



CM: /)2$ o1 li+e births

'nly /!$ ha+e HL

He*olytic ane*ia, *icrocehaly, *entalretardation, HSM, aundice, cerebral

calci1ications

D67 seru* anti)CM:D67 seru* anti)CM:9gM, intranuclear9gM, intranuclearinclusions owl eyesinclusions owl eyesin renal tubular cellsin renal tubular cells

on UAon UA



Syhilis

8reone*a allidu*

crosses lacenta

'1ten 1atal

Hutchinsons 8riad7 abnor*al central incisors,

interstitial keratitis, ro1ound SNHL

D67 :D-L, F8A)AS, audiogra*

867 long ter* 3CN, a*icillin, tetracycline or

erythro*ycinK steroids 1or HL



3renatal 8eratogens

#t'H

8halido*ide

-adiation

A*inoglycosides



3erinatal Causes o1 HL

Hyo6ia

?ernicterus

3ersistent 1etal circulation



3ostnatal Causes o1 HL Meningitis suurati+e labryrinthitis.

'ssi1ication o1 labryinth

Steroids hel re+ent HL

Most co**on ostnatal cause o1 HL

:iral in1ection7 *u*s 'toto6insBChe*otheray

8rau*a acoustic, blunt, enetrating.

3erily*h 1istula

Neolas*7 *edulloblasto*a, AN, 1ibrous dyslasia,histiocytosis.

Autoi**une rare in children.



9nner #ar Dys*orhologies

Michels alasia

Mondini alasia

Scheibe alasia

Ale6ander alasia

ing Sieben*ann

#nlarged +estibular a&ueduct

Absence o1 CN :999



Michels alasia

AD or thalido*ide e6osure

Co*lete alasia o1 inner ear

Anacusis, nor*al *iddle and outer ear

D67 C8 shows hyolastic etrous yra*id,

absent cochlea and labyrinth



Mondini Alasia

AD

Most co**on cochlear abnor*ality

3rogressi+e or 1luctuating HL risk o1 erily*hatic gusher and

*eningitis 1ro* dilated cochlear a&ueduct

D67 C8 re+eals single turned cochlea, nointerscalar setu*

867 HA, cochlear i*lant



Schiebe Alasia

A-

3artial or co*lete alasia o1 ars in1erior

cochlea and saccule., nor*al ars sueriorSCC and utricle.

De1ect o1 *e*branous labyrinth only,

there1ore can not diagnose on C8



Ale6ander Alasia

A-

Abnor*al cochlear ductB basal turn

High 1re&uency SNHL

Cannot diagnose on C8



#nlarged +estibular a&ueduct

De1ined by dia*eter o1 duct 52** at

*idoint

3rogressi+e cochleo+estibular loss

No treat*ent



8hanks 1or listening



>uestions

hat $ o1 atients with NF)/ ha+e

acoustic neuro*asO

a. $

b. 2!$

c. !$

d. "$



hat $ o1 atients with NF)2 ha+e acoustic

neuro*asO

a. $

b. 2!$

c. !$

d. "$



hat is the basic de1ect that causes Alort

syndro*eO

a. abnor*al renal tubules b. abnor*al collagen 9: in glo*erulus

c. abnor*al collagen 9 in glo*erulus

d. abnor*al renal arteries



hat is the ri*ary inheritance attern 1or

Alorts syndro*eO



hat syndro*e does

this atient ha+eO

a. %oldenhar b. 8reacher Collins

c. Crouon

d. Aert



hat inner ear alasia will not allow 1or

cochlear i*lants or a*li1ication aidsO

a. Mondini alasia b. Michels alasia

c. #nlarged +estibular a&ueduct

d. Ale6ander alasia



hich inner ear dylasia is characteried

by a lack o1 setae in the cochlea and only

a basal turnOa. Mondini alasia

b. Michels alasia

c. #nlarged +estibular a&ueductd. Ale6ander alasia



hat is the inheritance attern o1 M9DD

and M#LASO



hat abnor*ality is noted on this te*oral bone

C8O



hat genetic *utation is resonsible 1or

tye 9 and 999 aardenburg syndro*eO

a. C'L2A/ b. 3endrin

c. 3A0E

d. Chr 22&/2



8hanks 1or listening

congenital_hearing_loss_astarkweather_3-25-09 hl.ppt

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