PRESENTER:DR HAPUNDA SUPERVISOR: DR NYAGAH

17/12/13

OBJECTIVES1.INTRODUCTION

2.CLASSIFICATON

3.EPIDEMIOLOGY

4.ETIOLOGY

5.DIAGNOSIS 6.MANAGEMENT AND REHABILITATION

7.FUTURE AND CONTROVERSIES

INTRODUCTIONDEFINITIONA congenital malformation is a congenital physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. Anomalies of external and middle ears usually occur together External and middle ear anomalies are of major importance to both the patient and the otolgist 1

1 . Pediatric otolaryngology volume 1 , Bluestone , stool,kenna

CLASSIFICATIONSYNDROMIC EAR

MALFORMATIONA typical

combination of malformations affecting more than one body part

NON SYNDROMIC EAR MALFORMATION

OssicularNon-ossicular -Vascular -Non vascular

EPIDEMIOLOGYIn the ENT region 50% of the malformations

affect the earThe incidence of ear malformations is

approximately 1 in 3800 newbornsMalformations of the outer and middle ear

are predominantly unilateral ( 70-90%) and mostly involve the right ear

11-30 % of Inner ear malformation ass with outer and middle ear malformations.

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3. Weerda H. Chirurgie der Ohrmuschel. Verletzungen, Defekte und Anomalien. Stuttgart: Thieme; 2004. pp. 105–226.

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4. Swartz JD, Faerber EN. Congenital malformations of the external and middle ear: high-resolution CT findings of surgical import. AJR. 1985;144:501–506.

ETIOLOGY Genetic

Acquired : infections (viral , bacterial ) chemical agents, irradiation

Unknown origin.

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5. Pediatric syndromic hearing loss , Grand rounds Presentation , UTMB,Dept of otolaryngology Sept 24 2009 Ryan Ridley ,MD

OSSICULAR ANOMALIESEmbryogenesis

Failure of mesenchymal absorption

Failure of embryogenesis

Failure of differentiation

OSSICULAR ANOMALIESFixation of stapes /

hypoplasia of oval window

Bony fixation of lateral wall and head of malleus

Absent long crus of incus

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6.Current Diagnostic and Treatment Otolaryngology Head and Neck second edition Anil K Lalwani

DIAGNOSISClinical manifestationAudiometryTympanometryImagingExploratory Surgery

ClinicalSimilar to OMECHLOtoscopic exam : unremarkable except malleus –incus fusion, hypoplasia of malleus,M/E aplasia.General exam to r/o syndrome

AUDIOGRAM OSSICULAR ANOMALIES

7. Pediatric Ear Diseases: Diagnostic Imaging Atlas and Case Reports By Yasushi Naito

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MANAGEMENTMedical tx Surgical txAUDITORY

REHABILITAION

Hearing AidBone anchored hearing aid

By dedicated otologist

Timing of surgery?

Preop Imaging imperative

Adequate preop anesthetic assessment

CLASSIFICATION OF CONGENITAL OSSICULAR ANOMALIES OF MIDDLE EAR8

8. Teunissen and Cremer

SURIGCAL MANAGEMENT FOR OSSICULAR ANOMALIESISOLATED STAPES FOOTPLATE FIXATION- Stapedectomy / Stapedotomy

STAPES ANKYLOSIS ASS WITH OTHER DEFORMITY

- Stapedectomy/Stapedotomy - Malleovestibulopexy

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9. Scott_Brown’s otolaryngology Head and Neck volume 1 seventh edition

ISOLATED NON STAPES M/E ANOMLIES

Tympanoplasty

Attic fixation: atticotomy

Bony bar : laser , mircodrill or currette

Absence of long process of incus : prosthesis

CONGENITAL APLASIA OR SEVERE DYSPLASIA OF THE OVAL AND ROUND WINDOW

- Auditory rehabilitation with hearing aid or BAHA

NON OSSICULAR MIDDLE EAR CONGENITAL MALFORMATIONSPERSISTENT SATAPEDIAL ARTERYIncidence : 1 in 5000-10000 asymptomaticPulsatile tinnitus CHL

Retraction or avoidance may be the most prudentmanagement.

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Persistent stapedial artery

13. Schuknecht's Pathology of the Ear edited by Saumil N. Merchant, Joseph B. Nadol

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HIGH JUGULAR BULB

HIGH JUGULAR BULBThe bulb is subject to congenital dehiscence

and an aberrant position within the middle ear

A high riding jugular bulb is distinguished from an asymmetrically large jugular bulb by its dome (roof) reaching above the internal acoustic meatus (IAM.

If the sigmoid plate is deficient, the bulb is free to protrude into the middle ear cavity, and is then known as a dehiscent jugular bulb

HIGH JUGULAR BULB

HJBAsymptomaticTinnitusCHLD/D : aberrant ICA, PSA

glomus tympanicum tumor

Mgt: Ligation bone or cartlage

graft

ABBERANT INTERNAL CAROTID ARTERY

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ABBERANT INTERNAL CAROTIDPulsatil tinnitusCHLOtalgiaBruit

Mgt: Covering an aberrant vessel withfascia, a bone graft, or a Silastic (ie, polymeric

silicone)sheet .

ANOMOLOUS COURSE OF FACIAL NERVETYMPANIC SEGMENT 8-11 mm Runs in facial canal, which is a Z shaped

canal running throulgh the temporal bone from the IAM to the stylomastiod foramen

Facial canal may have an anomalous course or may show dehiscent.

Facial nerve arises form otic capsule and 2nd brachial arch,cause of anomolous course is failure of fusion of the two.

ANOMOLOUS COURSE OF FACIAL NERVEFacial nerve partially

obliterates the stapes foot plate

Bifurcation of the facial nerve

Facial nerve rests on footplate with deformed stapes or oval window

Facial nerve rests on promontory14 Rohrt T ,Lorentzen P. Facial nerve displacement within the middle ear (report of 3 cases).Journal of

Laryngology and otology 1976 ;90:1093-8

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CONGENITAL PERYLYMPHATIC FISTULA

Diagnosis-Controversial Fistula test, valsalva test , audiometry, ECOG,ENG, HRCT, MRI scan

-Weber et al define intraop diagnosis as being based on the identification of clear fluid which reacumulates with anesthetic valsalva or trendlenburg manoeuvre.-Beta transferrin positive samples 15 Weber PC ,Bluestone CD , Perez B . Outcome of hearing and vertigo after surgery for

congenital perilymphatic fistula in children . American Journal of Otolaryngoloy .2003;

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CONGENITAL PERYLYMPHATIC FISTULATreatment As a result of difficulty in diagnosis , weber et

al suggest packing temporalis muscle around oval and round windows in all suspected cases, based on the finding that packing does not cause complications such as CHL.15

CONGENITAL CHOLESTEATOMACriteria of Derlaki

and Clemis -White mass medial

to an intact T/M-Normal pars tensa

and flaccida-No previous hx of

ear discharge, perforation or previous otological procedure

CONGENITAL CHOLESTEATOMAPathogenesis

ASQ : failure of normal involution of epidermoid tissue

PQ: posterior migration of ant epidermoid tissue

Amniotic cellular material in M/E Ingrowth of epithelium from EAC thru

defect TR

CONGENITAL CHOLESTEATOMAAnterosuperior Quadrant

Posterosuperior Quadrant

27-67%

Near long process malleus

Minimal ossicular involv.

2-4 years

33-78%

Near ISJ

Freq ossicular involv.

12 years

CONGENITAL CHOLESTEATOMACLASSIFICATIONType 1 – Confined to the

middle ear and do not involve the ossicles

Type 2 – Involve the posterior superior quadrants and attic, the site of the ossicular chain

Type 3 – Involve the sites of type 1 and 2 as well as the mastoid

STAGESStage I – Limited to one

quadrant

Stage II – Involving multiple quadrants without ossciular involvement

Stage III – Ossicular involvement without mastoid extension

Stage IV – Mastoid involvement (67% risk of residual cholesteatoma)

16.Nelson et. al Congenital Cholesteatoma: Classification, Management and Outcome. Arch Oto Head Neck Surg July 2002; 128: 810:814

17.Levenson MJ et al. Congenital cholesteatomas in children: an embryologic correlation. Laryngoscope. 1988; 98:949-955

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CONGENITAL CHOLESTEATOMAmanagementType 1 – Controlled by extended tympanotomy.

No second-look re-operation.

Type 2 – Extended tympanotomy. Possibly atticotomy and canal wall up tympano-mastoidectomy with or without opening of the facial recess. Require second look. Possible ossicular reconstruction.

Type 3 – Similar to type 2, but occasionally need a canal wall down tympanomastoidectomy

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OTHER M/E ANOMALIESTYMPANIC MEMBRANE ANOMALIEST/M replaced by fibrous tissueSmall T/MDistorted T/MEUSTACHIAN TUBE ANOMALIESAbsenceAbnormally narrowCongenital tumor(polyp)Collapsed lumen of ET

MASTOID ANOMALIESAbsence of mastoid antrumPoorly developed mastoid antrumSmall mastoid process

SYNDROMIC MIDDLE EAR CONGENITAL MALFORMATIONHearing loss is one of the most common

congenital anomalies, occurring in approximately 2-4 infants per 1000

Approximately one-third of children with genetic hearing loss will display phenotypic characteristics of a syndrome while two-thirds will be nonsyndromic

Whether the hearing loss is syndromic or

nonsyndromic, it is of the utmost importance to identify these patients early

DOWNS SYNDROMEThe hearing loss in DS is usually conductive secondary to the chronic middle ear disease but can also be due to ossicular chain abnormalities, especially the stapes

Middle ear : thickening of malleus as a result of bone hyperplasia , fusion of the malleolar head to the body of the incus, spongy apperance of the long process of the incus, and abnormalities of the stapes.

OSTEOGENSIS IMPERFECTA

Causative mutations involve the COL1A1 or COL1A2 gene which regulate formation of type I collagen. The conductive component of the hearing loss is attributed to the thickened and fixed stapes footplate, similar to what is seen in otosclerosis.

TREACHER COLLIN

Hearing loss in this syndrome is usually conductive with a wide array of middle ear anomalies present such as monopodal stapes, ankylosed foot plate,

1. History TakingExaminationInvestigationsBehavioural hearing assessment,

Electrophysiological hearing tests, Tympanometry

ManagementMedical, Surgical, Rehabilitation (hearing aids)

and Follow-up

REFERENCES 1. Pediatric otolaryngology volume 1 , Bluestone , stool,kenna 2.Surgery of the Ear Glasscock-Shambaugh 3. Weerda H. Chirurgie der Ohrmuschel. Verletzungen, Defekte und Anomalien. Stuttgart: Thieme; 2004.

pp. 105–226 4. Swartz JD, Faerber EN. Congenital malformations of the external and middle ear: high-resolution CT

findings of surgical import. AJR. 1985;144:501–506.Current Diagnostic and Treatment Otolaryngology Head and Neck second edition Anil K Lalwani

5.Pediatric syndromic hearing loss , Grand rounds Presentation , UTMB,Dept of otolaryngology Sept 24 2009 Ryan Ridley ,MD

6.Current Diagnostic and Treatment Otolaryngology Head and Neck second edition Anil K Lalwani 7. Pediatric Ear Diseases: Diagnostic Imaging Atlas and Case Reports By Yasushi Naito 8. Teunissen and Cremer 9. Scott_Brown’s otolaryngology Head and Neck volume 1 seventh edition 10 surgical atlas of Pediatric Otolaryngology Bluestone and Rosenfeld 11.Van der Hoeve J, de Kleyn A. Blaue skleren, knochenbruchigkeit und schwerhohrigkeit. Arch Ophthalmol

1918; 95:81-93. [German 12. Clinical audiology Brad A Stach 13. Schuknecht's Pathology of the Ear edited by Saumil N. Merchant, Joseph B. Nadol 14 Rohrt T ,Lorentzen P. Facial nerve displacement within the middle ear (report of 3 cases).Journal of

Laryngology and otology 1976 ;90:1093-8 15 Weber PC ,Bluestone CD , Perez B . Outcome of hearing and vertigo after surgery for congenital

perilymphatic fistula in children . American Journal of Otolaryngoloy .2003; 16.Nelson et. al Congenital Cholesteatoma: Classification, Management and Outcome. Arch Oto Head Neck

Surg July 2002; 128: 810:814 17.Levenson MJ et al. Congenital cholesteatomas in children: an embryologic correlation. Laryngoscope.

1988; 98:949-955

FUTURE AND CONTROVERSEYDevelopments in middle ear implantation

may render corrective surgery almost redundant

The incidence , aetiology and pathogensis of congenital ossicular abnormalities is poorly understood.