Transcript Pediatric Hearing Loss - UCLA Head and Neck Surgery

Pediatric Hearing Loss
UCLA Head & Neck Surgery
Ontario Lau MD
Epidemiology
• congenital SNHL 1-3 per 1000 per live births
• 10x greater for infants with 1 or more risk factor
than those with no risk factors, ie 2% to 5%.
• late-onset and acquired hearing loss in
childhood 6x higher than the incidence of
hearing loss in the neonatal period
• 1% all children have HL
Evaluation
• History:
– intrauterine infections (most commmon prenatal cause)
– perinatal infection, maternal drug abuse, low Apgar score (most common
perinatal causes)
– Prematurity, NICU stay, bilirubinemia,family history.
– Meningitis (most commmon postnatal cause)
• Physical: microscopic exam; auricle, periauricular pits, craniofacial
abnormalities,
• +/- ocular, thyroid, skin, limb exams look for syndromic cause
Evaluation
• OAE
• ABR
– TORCH, meningitis, family hx, craniofacial abnormalities,
birth weight <1.5kg, neonatal hyperbilirubinemia, Apgar <4
at 1 minutes, <6 at 5 minutes, prolonged NICU stay or
ECMO or mechanical vent, exposure to ototoxic meds.
• Behavior observation audiometry (birth to 6 mos)
• Visual Reinforcement Audiometry (6mos-3yrs)
• Conventional play audiometry (3-6 yrs)
• Standard Audiometry (6 yrs+)
Ancillary Tests
Imaging: CT temporal bone: inner ear disorders,
cholesteatoma, & osteodysplasias.
CBC, lipid profile, IgM assay for TORCH
(Toxoplasmosis, Other[syphilis], Rubella,
Cytomegalovirus, Herpes simplex)
Connexin-26 test
Other tests as indicated by ddx.
Causes of HL
•
•
•
•
•
5-10% prenatal causes (TORCH, teratogens)
5-15% perinatal causes (hypoxemia etc)
10-20% postnatal causes (meningitis etc)
20-30% UNKNOWN
30-50% genetic
Acquired prenatal hearing loss
Congenital Cytomegalovirus
• most common infectious cause, >4000 annual cases
• Incidence of infection: 1-2 cases/100 live birth
 <5% develop multiorgan dx 50% of those develop HL
 5-15% silently infected infants eventually develop HL
• Oto SSx: B progressive high freq SNHL
• Other SSx: Cerebral calcification,
microcephaly, mental retardation,
hepatosplenomegaly, jaundice.
Acquired prenatal hearing loss
Congenital Cytomegalovirus
• Dx: serum anti-CMV IgM, CMV DNA from body
fluid,+ intranuclear inclusions (owl eyes) in renal
tubular cells in urinary sediment (1 to 2 weeks of life)
• Rx: Ganciclovir—little effect for HL since damage
happened already in utero
Acquired prenatal hearing loss
Congenital Syphilis
• Pathophysio: transplacental transmission, 100% inoculation rate
• 40% perinatal death
• Oto SSx: frequent +Hennebert sign (aka +fistula sign)
– Early deafness birth to 3 yo
– delayed 8-20 yo.
• Other SSx: Hutchinson triad: abnormal central incisors
(aka Hutchinson teeth), interstitial keratitis of the eye,
bony abnormalities
• Dx: RPR,VDRL(sensitive); FTA-ABS(specific)
• Tx: PCN
Acquired prenatal hearing loss
Congenital Rubella
• Rare since vaccination (0-3 per year now in USA)
• Pathophysio: vasculitis resulting in tissue necrosis
• Oto SSx: B often asymmetric severe to profound
SNHL
• Other SSx: growth delay, learning disability, congenital
heart disease, and ocular, endocrinologic, and
neurologic abnormalities.
• Dx: urine/throat/amniotic fluid clx, antirubella IgM
Inner Ear Dysmorphologies
• Time frame: membranous labyrinth is
interrupted during 1st trimester
• Etiologies: Genetic or teratogenic exposure
• Classifications
– membranous labyrinth ONLY (seen at autopsy)
– Osseous & membranous labyrinth ( seen in CT)
Inner Ear Dysmorphologies
• Incidence: 20% congenital SNHL will show
abnormal inner ear on CT temporal bone
– Bony: Dilated Vestibular aqueduct >cochlea>SCC
(as reflected by modern imaging technology)
Inner Ear Dysmorphologies
membranous labyrinth ONLY
• Complete membranous labyrinthine dysplasia
(Siebenmann-Bing)
• Limited membranous labyrinthine dysplasia
– Scheibe dysplasia (cochleosaccular dysplasia) MOST
common membranous labyrinthine dysplasia
– Cochlear basal turn dysplasia
Bing-Siebenmann
• Extremely rare
• Associated with Jervell and Lange-Nielsen
syndrome and Usher syndrome.
Scheibe dysplasia
cochleosaccular dysplasia
• Pathophysio: incomplete development of the
pars inferior
– Cochlea dysplasia: severa in the basal turn, lessen
toward apex, or severe throughout
– Saccule: collapsed
– Organ of Corti: partial or completely missing
– SCCs & utricle: NORMAL
• OtoSSx: SNHL
• Associated w/ Usher syndrome & Waardenburg
syndrome
.
Cochleosaccular Dysplasia: A Morphometric and
Histopathologic Study in a Series of Temporal Bones.
Sampaio, Andre; Cureoglu, Sebahattin; Schachern,
Patricia; Kusunoki, Takeshi; Paparella, Michael; Oliveira,
Carlos
Otology & Neurotology. 25(4):530-535, July 2004.
FIG. 1. (A) In the apical turn of this right temporal bone from case 10,
there is a large cystic area (arrow) in the stria that intersects in its
apical portion with a hydropic Reissner's membrane (arrowhead). O,
organ of Corti represented by supporting cells; T, deformed tectorial
membrane; S, atrophic stria vascularis. (B) There are strial cysts (arrow)
in the lower basal turn of this left temporal bone from case 2. (C) In the
lower basal turn of this right temporal bone from case 8, there is a
strial concretion (short arrow), a collapsed Reissner's membrane
(arrowhead), and an amorphous substance (long arrow) within a rolled
tectorial membrane.
2
Inner Ear Dysmorphologies
osseous & membranous labyrinth
• Complete labyrinthine aplasia
(Michel) 1%
• Cochlear anomalies
– Cochlear aplasia 3%
– cochlear hypoplasia 15%
– Incomplete partition (Mondini)
55%
– Common cavity 26%*
*Jackler RK, Luxford WM, House WF: Congenital malformations of the inner ear: a classification
based on embryogenesis, Laryngoscope Suppl 97:2, 1987
Michel: complete labyrinthine Aplasia
• Exceedingly rare.
• Associated w/
anencephaly &
thalidomide exposure.
• Overestimated due to
confusion with
acquired labyrinthine
ossification.
Mondini: incomplete partition
• Pathphysio: arrest at 7th week gestation 1.5
turn cochlea
• Oto SSx: normal to profound SNHL
• Other SSx:
– 20% SCC deformities;
– dilated cochlear aquaduct: perilymphatic gushers &
meningitis
Mondini: incomplete partition
• CT/MRI findings:
– smaller cochlea (5-6mm vs 8-10mm vertical
dimension of normal cochlea)
– absence of a scalar septum
Common Cavity
• Pathphysio: arrest at 4th week otocyst stage or
later
• CT/MRI findings:
– Empty ovoid space (average 7mm vertically, 10mm
horizontally)
– Common cavity cochlear ANTERIOR to the IAC
on axial CT
• Oto SSx: variable SNHL, usually poor
Common Cavity
Implanting Common Cavity Malformations Using
Intraoperative Fluoroscopy.
Coelho, Daniel; Waltzman, Susan; Roland, J
Otology & Neurotology. 29(7):914-919, October 2008.
DOI: 10.1097/MAO.0b013e3181845827
FIG. 2 . A transorbital plain x-ray intraoperative view. Note that the array has
passed into the IAC. The arrow denotes the junction between the common
cavity and the IAC as seen in this orientation. Inset outlines the lumen of the
common cavity (cc) and the IAC. Reprinted with permission from Fishman AJ,
Roland JT Jr, Alexiades G, Mierzwinski J, Cohen NL. Fluoroscopically assisted
cochlear implantation. Otol Neurotol 2003;24:882-6.
2
Inner Ear Dysmorphologies
osseous & membranous labyrinth
• Labyrinthine anomalies
– Semicircular canal dysplasia
– Semicircular canal aplasia
• Aqueductal anomalies
– Enlargement of the vestibular
aqueduct
– Enlargement of the cochlear
aqueduct
•
Internal auditory canal
anomalies
– Narrow IAC
– Wide IAC
*Jackler RK, Luxford WM, House WF: Congenital malformations of the inner ear: a classification
based on embryogenesis, Laryngoscope Suppl 97:2, 1987
Semicircular Canal Dysplasia
• 40% malformed
cochlea a/w dysplasia
of lateral SCC
– Lateral>>post/superi
or
• Pathphysio: arrest at
6th week
• CT/MRI findings :
short, broad cystic
space confluent with
the vestibule
Enlargement of the Vestibular Aqueduct
• Epid: most common radiographically detectable
malformation of the inner ear
• Pathphysio: Acquired abnormal communication
between the subarachnoid space and the fluid chambers
of the inner ear
• Oto SSx:
– born w/ normal or mildly impaired hearing that gradually
worsens;
– hearing variable, 40% profound SNHL
– CHL possible: AVOID STAPEDECTOMY! (a/w
perilymphatic gusher)
Enlargement of the Vestibular Aqueduct
• CT/MRI findings :
–
–
–
–
CT: VA> 2mm (normal 0.4-1mm)
a/w cochlea or SCC malformation
MRI: Dilated endolymphatic sac, sometimes >2cm
Usually bilateral
• RX: CI, avoid endolymphatic
surgery/stapedectomy
Wide Internal Auditory Canal
• Usually incidental finding in normal hearing
subjects
• CT/MRI findings : IAC>10mm
• a/w spontaenous CSF otorrhea & gusher during
stapes surgery obtain CT for congenital CHL!
Narrow Internal Auditory Canal
• Pathphysio : agenesis of CN VIII
• CT/MRI findings : IAC<3 mm, bony canal only
transmits CN VII
• Relative contraindication to CI
GENETIC HL
• >50% non-syndromic
– 75% to 80%
autosomal recessive
– 15% to 20%
autosomal dominant
– 1% to 2% is X-linked.
– <<1% mitochondrial
inheritance
Autosomal Recessive Disorders
Usher syndrome
• Most common cause of congenital deafness
• 50% deaf-blind in USA
• Pathophy: unknown, could also be autosomal
dominant, X-linked
• SSx:Variable SNHL, progressive retinitis pigmentosa
• Dx: Electroretinography
Usher syndrome
subtypes
• I: profound congenital SNHL, No vestibular response
Blind by childhood, most common
• II: moderate to severe SNHL, normal vestibular
response, blind by early adulthood
• III: progressive SNHL, progressive vestibular
dysfunction, varied progression in blindness
Autosomal Recessive Disorders
Pendred syndrome
• Pathophy: Defect in tyrosine iodination from pendrin
(chloride/iodide transporter)
• OtoSSx: severe to profound SNHL, a/w Mondini
deformity, dilated vestibular aqueducts.
• Other SSx: multinodular goiter in 8-14 yo
• Dx: + perchlorate test
• Rx: Thyroid supplement
Autosomal Recessive Disorders
Jervell and Lange-Nielsen Syndrome
• Pathophy: mutation in potassium channel
• OtoSSx: B severe to profound SNHL
• Other SSx: cardiac abnormalities, recurrent syncope,
sudden death
• Dx: EKG ( prolonged QT, large T-wave)
• Rx: beta-blocker, HA
Autosomal Recessive Disorders
Goldenhar Syndrome
• aka Hemifacial Microsomia/ Oculoauriculovertebral
spectrum
• Pathophy: uncertain, malformation of 1st and 2nd arch
derivatives
• OtoSSx:
– microtia/EAC atresia, ossicular malformationCHL
– abnormal CN VII, SCC, oval windowSNHL
Autosomal Recessive Disorders
Goldenhar Syndrome
• Other SSx:
–
–
–
–
Ocular: epibulbar dermoids, colobomas of upper eyelids
Vertebral: fusion or absence of cervical vertebrae
Facial asymmetry
Mild mental retardation
• Dx: PE
Autosomal Dominant Disorders
Waardenberg Syndrome
• Pathophy: abnormal tyrosine metabolism
• OtoSSx: U/B SNHL, +/- vestibular dysfunction
• Other SSx:
– Pigmentary abnormalities
(heterchromic iriditis,
white forelock,
patch skin depigmentation
– Dystopia canthorum
– Synophrys
– Flat nasal root,
– Hypoplastic alae
Autosomal Dominant Disorders
Waardenberg Syndrome
•
•
•
•
Subtypes
I: + telecanthus, 36-66.7% SNHL
II: -telecanthus, 57-85% SNHL
III: type 1 + hypoplasia or contracture of the upper
limbs. (=Klein-Waardenburg syndrome)
• IV: WS + Hirschsprung disease (Waardenburg-Shah
syndrome) autosomal recessive
• Dx: clinical H&P, family Hx
Autosomal Dominant Disorders
Stickler Syndrome
• =Progressive Arthro-Ophthalmpathy
• Pathophy: mutation in type II and type XI collagen, variable
phenotype; 1:10,000
• OtoSSx: progressive SNHL, MHL ( from ETD of clefting)
• Other SSx:
– myopia, retinal
detachment
– Marfanoid habitus
– joint hypermobilities
– Midline clefting
• Dx: clinical H&P, family Hx
Autosomal Dominant Disorders
Branchio-Oto-Renal Syndrome
• =Melnick Fraser Syndrome, 1 in 40,000 newborns
• Pathophy: branchial arches, otic & renal abnormal development
• OtoSSx:
– preauricular ear pits/tags, microtia, EAC stenosis; middle/inner ear
anomalites
– 50% MHL, 30% CHL, 20% SNHL
• Other SSx: varied renal abnormalities (agenesis to mild dysplasia)
• Dx: Renal US or pyelography; renal abnormalities frequently
asymptomatic
Autosomal Dominant Disorders
Treacher Collins Syndrome
• =Mandibulofacial dysostosis
• Pathophy: uncertain.
• OtoSSx: microtia/EAC atresia, preauricular fistulas, malformed
ossicle CHL, widened aqueduct, aberrant CN VII
• Other SSx: mandibular hypoplasia-fishmouth; downward slanting
palpebral fissures, coloboma of lower eyelids, palate defects.
Choanal atresia
• Dx: clinical H&P, family Hx
• Rx: BAHA, possible atresia repair
Autosomal Dominant Disorders
Neurofibromatosis I
•
•
•
•
=Von Recklinghausen disease
Pathophy: NF 1 in chromosome 17
OtoSSx: retrocochlear HL
NF 1 (2/7 characters)
–
–
–
–
–
–
–
>6 café-au-lait spots
2 or more neurofibromas or 1 plexiform neurofibroma
Axillary or groin freckling
Optic nerve glioma
Lisch nodules (eye hamartomas)
Bony lesions
+family Hx
• 5% risk of U vestibular schwannoma
Autosomal Dominant Disorders
Neurofibromatosis 2
• Pathophy: mutation in Merlin ( tumor suppressor gene) in chromosome 22
• OtoSSx: retrocochlear HL
• NF 2
– B vestibular schwannoma by 2nd decade of life
– Family h/o NFII in a 1st degree relative PLUS
– A) unilateral vestibular schwannoma at <30 yo
– B) 2 neurofibroma + other intracranial & spinal cord tumors
(gliomas/schwannomas/meningiomas)
Autosomal Dominant Disorders
Apert Syndrome
• =Acrocephalosyndactyly
• Pathophy: autosomal dominant or sporadic
• OtoSSx: Stapes fixation CHL, patent cochlear aqueduct, large
subarcuate fossa
• Other SSx:
– lobster claw hands
– midface abnormalites (hypertelorism, proptosis,
saddle nose, high-arched palate)
– craniofacial dysostosis
– trapezoid mouth
Autosomal Dominant Disorders
Crouzon Syndrome
• = Craniofacial dysostosis , Pathophy: unknown
• OtoSSx: microtia/EAC atresia, malformed ossicle CHL,
• Other SSx: midface abnormalites (hypertelorism, small maxilla,
exophthalmos, parrot nose, short upper lip, craniofacial
dysostosis, mandibular prognathism
Sex-linked Disorders
Alport Disease
• Pathophy: 80% X-linked or autosomal dominant/recessive.
Abnormal Type IV collagen formation in glomerular basement
renal failure
• OtoSSx: B degeneration of organ of Corti and stria slowly
progressive SNHL
• Other SSx: hematuria, progressive nephritis, macular/corneal
lesions
• Dx: skin or renal bx w/ electron microscopy, UA
• Rx: HD, renal transplant.