Pedi Otology and Facial Nerve Disorders Flashcards
1
Q
Discuss the embryology of the external auditory
canal and middle ear structures.
A
● External auditory canal: First branchial groove
● ET, middle ear, mastoid air cells: First branchial pouch
● Malleus head, incus short process, and body: First
branchial arch
● Malleus manubrium, incus long process, stapes supra-
structure: Second branchial arch
● Stapes footplate: Otic capsule
2
Q
What syndromes are most commonly associated
with auricular deformities?
A
● BOR syndrome ● Nager syndrome ● Treacher Collins syndrome ● DiGeorge syndrome ● CHARGE association
3
Q
Discuss the causes of microtia.
A
● Unilateral:bilateral = 4:1
● Right ear:left ear = 3:2
● Male > female
● 55 to 93% are associated with external auditory canal
atresia or stenosis.
● 50% are associated with a congenital syndrome.
4
Q
Describe the Marx classification system for
microtia.
A
Marx classification
● Grade I: Smaller than normal auricle with mild deformity,
but all parts can be distinguished
● Grade II: Abnormally small auricle with only partial helical
structure preserved
● Grade III: Severe deformity with mostly skin-only lobular
remnant
● Grade IV: Anotia
5
Q
Describe the Weerda classification system for
microtia.
A
Takes into account surgery required for repair.
● First-degree dysplasia: Most structures of a normal auricle
are present. Reconstruction normally does not require
the use of additional skin or cartilage.
● Second-degree dysplasia: All major structures are present
to some degree, but there is enough deficiency of tissue
that surgical correction requires the addition of cartilage
and skin.
● Third-degree dysplasia: Few or no recognizable landmarks,
although the lobule usually is present and positioned
anteriorly. Total reconstruction requires the use of skin
and large amounts of cartilage.
6
Q
What are the three types of cup ear deformities?
A
● Type I: Upper portion of the helix cupped, hypertrophic
concha, reduced auricular height
● Type II: More severe lopping of the upper pole of the ear
● Type III: Severe cup ear deformity, malformed in all
dimensions
Types I and II are considered first-degree dysplasia, and type
III is classified as third-degree dysplasia.
7
Q
Describe the traditional stages of rib cartilage
graft microtia repair.
A
Separated by 2 to 3 months, starting around 6 years of age
● Stage I: Auricular reconstruction (creation of a cartilagi-
nous framework with autogenous rib cartilage)
● Stage II: Lobule transposition
● Stage III: Atresia repair
● Stage IV: Construction of tragus
● Stage V: Auricular elevation
8
Q
What complications have been associated with
microtia repair?
A
● Pulmonary complications from rib harvest: atelectasis,
pneumothorax, pneumomediastinum, pneumonia
● Skin necrosis overlying the cartilage framework
● Chondritis
● Reabsorption
● Malposition of auricular implant
● Tissue breakdown of skin graft or of posterior aspect of
ear
● Keloiding of donor incision site or skin-graft areas
9
Q
What are common otoplasty techniques?
A
Most common: ● Mustardé technique ● Furnas technique Less common: ● Farrior technique ● Converse technique ● Pitanguay technique
10
Q
What complication of otoplasty can be caused by
too much flexion of the antihelix at a level equal
to the midportion of the ear and inadequate
flexion at the superior and inferior poles?
A
Telephone ear deformity. Can be prevented by repeatedly
checking the tension on all sutures during surgery
11
Q
Describe the Weerda classification for external auditory canal (EAC) malformations.
A
Weerda Classification for EAC stenosis
● Type A: Marked narrowing of the EAC with an intact skin
layer
● Type B: Partial development of the EAC with a medial
atretic plate
● Type C: Complete bony EAC atresia
12
Q
What are the minor and major malformations in
congenital aural atresia?
A
De La Cruz classification system Minor malformations: ● Normal mastoid pneumatization ● Normal oval window footplate ● Favorable facial nerve–footplate relationship ● Normal inner ear Major malformations: ● Poor mastoid pneumatization ● Abnormality or absence of oval window/footplate ● Abnormal course of the facial nerve ● Abnormalities of the inner ear
13
Q
What is the grading system used to predict
prognosis for hearing improvement after repair
of aural atresia?
A
Jahrsdoerfer grading system
14
Q
What is involved in the preoperative planning for
repair of congenital aural atresia?
A
Audiometric evidence of cochlear function: Ideally, auditory
brainstem response (ABR) testing should be performed
within first few days of life in patients with bilateral atresia,
preferably with unilateral atresia as well.
Radiographic three-dimensional evaluation of the temporal
bone can be deferred until age 5 or 6 years.
15
Q
You are reviewing the temporal bone CT scan in
a 6-year-old child with bilateral aural atresia. The
scan demonstrates a gray mass in the middle ear
cleft on the left with associated bony erosion.
What is the most likely diagnosis?
A
Congenital cholesteatoma (present in 15% of cases of congenital atresia)
16
Q
What are the critical elements to review on a
temporal bone CT scan that will predict hearing
prognosis in congenital aural atresia repair?
A
● Status of the inner ear
● Extent of temporal bone pneumatization
● Course of the facial nerve
● Presence of the oval window and stapes footplate
17
Q
What are the two basic approaches for repair of
congenital aural atresia?
A
● Anterior approach: Drilling area is defined by the
temporomandibular joint (TMJ) anteriorly, the middle
cranial fossa dura superiorly, and the mastoid air cells
posteriorly.
● Mastoid approach: Sinodural angle is first identified and
followed to the antrum. The facial recess is opened and
the incudostapedial joint separated. The atretic bone is
then removed.
18
Q
Which congenital syndrome has a wide range of
clinical manifestations with the typical presentation
involving epibulbar dermoids or lipodermoids, mi-
crotia, mandibular hypoplasia, coloboma, hemifacial
microsomia and vertebral anomalies?
A
Goldenhar syndrome, also known as oculoauriculovertebral
dysplasia
19
Q
What external ear anomalies are associated with
Goldenhar syndrome?
A
● Preauricular appendages and fistulae
● Anomalies of the auricle
● Atresia of the external auditory canal
● Microtia or anotia
20
Q
What are the TORCH organisms?
A
● Toxoplasmosis
● Other infections: Syphilis, Coxsackievirus, varicella-zoster virus, HIV, and parvovirus B19, syphilis ● Rubella ● CMV (CMV, the most common) ● Herpes
21
Q
Discuss the type of hearing loss associated with
congenital CMV infections.
A
Congenital CMV infections can cause SNHL in as many as
50% of children with symptomatic infections and as many as
12% of infants with asymptomatic infections. As many as
50% of cases of SNHL due to congenital CMV may have a
late onset during preschool or early school years.
22
Q
What inner ear structures are affected by CMV
infection?
A
The exact pathophysiology of CMV-induced SNHL is not
well understood: however, infants who have died of
cytomegalic inclusion disease have temporal bones with
characteristic cytomegalic inclusion bodies in the superficial
cells of the stria vascularis, Reissner membrane, limbus
spiralis, saccule, utricle, and semicircular canals.
23
Q
What is the difference between symptomatic con-
genital rubella infections and asymptomatic congen-
ital rubella infection?
A
● Symptomatic infection (rubella syndrome) occurs in the
first trimester of pregnancy producing hearing loss in
approximately 50% of patients. Other findings include
cardiac malformations, visual loss (e.g., cataracts, glau-
coma, retinitis, microphthalmia), osteitis, motor deficits,
thrombocytopenic purpura, hepatosplenomegaly, icter-
us, anemia, low birth weight, and cerebral damage and
mental retardation.
● Asymptomatic infection results from infection during the
second or third trimesters of pregnancy and is silent at
birth. It is associated with hearing loss in 10 to 20% of
patients. Hearing loss is most commonly seen audio-
metrically as a cookie-bite pattern.
24
Q
What are the inner ear anomalies most commonly
seen in congenital rubella infection?
A
● Cochleosaccular degeneration (Scheibe dysplasia)
● Strial atrophy
25
How are early and late congenital syphilis infections
| defined, and how do they influence hearing loss?
● Early infection: Initial symptoms present from birth to 2
years of age. SNHL is bilateral, flat, and usually without
vertigo.
● Late infection: Initial symptoms can be seen anytime after
2 years of age and into the sixth decade of life. SNHL can
be sudden, asymmetric, fluctuating, and progressive,
accompanied often by episodic tinnitus and vertigo.
26
What are the major features of congenital syphilis
| infection?
● Sensorineural hearing loss
● Interstitial keratitis
● Hutchinson teeth (notched incisors)
● Mulberry molars
● Clutton joints (bilateral painless knee effusions)
● Nasal septal perforation and saddle deformity
● Frontal bossing
● Skeletal findings: Osteochondritis and periostitis of long
bones leading to “saber shin” deformity
27
What are the clinical findings in congenital toxoplas-
| mosis infection?
At birth, 90% of infants with congenital toxoplasmosis have
no signs or symptoms. A subclinically infected infant may
later develop progressive lesions, most commonly chorio-
retinitis. Other findings include progressive CNS involve-
ment with decreased intellectual function, SNHL commonly
associated with calcified scars in the stria vascularis, and
precocious puberty.
28
When do the most common congenital cochlear
| malformations occur during development?
● Complete labyrinthine aplasia (Michel aplasia): Arrest at
week 3 of gestation
● Common cavity: Arrest at week 4 or 5 of gestation
● Cochlear hypoplasia: Arrest at week 5 of gestation
● Cochlear aplasia: Arrest at week 6 of gestation
● Incomplete partition (Mondini malformation, most com-
mon): Arrest at week 7 of gestation
29
What congenital anomaly results in the complete
absence of differentiated inner ear structures and
may be associated with stapes aplasia or malforma-
tion, anomalous facial nerve course, and vestibulo-
cochlear nerve aplasia?
Michel aplasia
30
What is the pathophysiology of Michel aplasia?
Developmental arrest of the otic placode before gestational
week 3. It has also been associated with thalidomide
exposure.
31
What congenital ear anomaly results from develop-
mental arrest of cochlear formation at week 7
of gestation, causing a failure in cochlear
partitioning, an absent interscalar septum, a
modiolus that is poorly formed or deficient, and a
cochlea with only 1 to 1.5 turns?
Mondini malformation
32
Mondini malformation is commonly seen in what
| congenital syndrome?
Pendred syndrome
33
What additional inner ear anomalies are commonly
seen in the evaluation of a child with Mondini
malformation?
● Enlarged vestibular aqueduct
● Semicircular canal deformities
● Communication with subarachnoid space (increased risk
for meningitis)
34
Patients with a Mondini malformation are at risk of
| what complication during cochlear implantation?
Perilymphatic (CSF) gusher. This complication is not a
contraindication to implantation, as good hearing out-
comes have been demonstrated despite significant peri-
lymphatic gusher noted intraoperatively, but patients
should be counseled appropriately regarding the increased
risk (although low) of a dead ear or bacterial meningitis.
35
Arrested development of the pars inferior of the
otocyst causes dysplasia of the cochlea and saccule,
but it does not impact the semicircular canals and
utricle, which results in what congenital ear dysmor-
phology?
Scheibe dysplasia (cochleosaccular dysplasia)
36
What congenital anomaly results from aplasia of
the cochlear duct and subsequent dysfunction of
the organ of Corti, particularly the basal turn of
the cochlea and adjacent ganglion cells, and how
does it impact hearing?
Alexander aplasia. High-frequency hearing loss is most
| prominent, whereas low frequency is relatively preserved.
37
What is enlarged vestibular aqueduct syndrome?
It is a combination of SNHL, inner ear abnormalities (wide
range), and enlarged vestibular aqueduct that can be
associated with Pendred syndrome, distal renal tubular
acidosis, Waardenburg syndrome, X-linked congenital
mixed deafness, BOR syndrome, otofaciocervical deafness,
and Noonan syndrome.
38
What is the radiographic definition of an enlarged
| vestibular aqueduct?
On CT, the vestibular aqueduct is diagnosed as enlarged
when the aqueduct is greater than 1.5 mm wide at the
midpoint between the common crus and its external
aperture. This is roughly the diameter of the posterior
semicircular canal. However, this is controversial, and
diagnostic thresholds have been reported from 0.9 to 2 mm
at the midpoint and 1.9 to 4 mm at the operculum.
39
What percentage of congenital SNHL is genetic?
Approximately 60% of cases of congenital SNHL can be
linked to a genetic cause, with roughly 30% of these
considered syndromic (most commonly Pendred) and the
remaining 70% nonsyndromic.
40
Discuss the genetics of nonsyndromic hearing loss.
● 80% of cases are autosomal recessive.
● 20% of cases are autosomal dominant.
● < 2% of cases are due to X-linked and mitochondrial
mutations.
41
What disorder is characterized by hearing loss,
vestibular dysfunction, and visual loss resulting
from retinitis pigmentosa?
Usher syndrome. The subtypes are distinguished by the
severity and progression of hearing loss and the presence or
absence of vestibular dysfunction, with visual loss due to
retinitis pigmentosa being common to all three subtypes.
42
What are the clinical manifestations of each type
| of Usher syndrome subtype?
● Type 1: Profound congenital deafness and absent
vestibular function (vestibular ataxia), onset of retinitis
pigmentosa before puberty (around the age of 10 years).
Autosomal recessive
● Type 2: Hearing loss is moderate to severe at birth.
Normal vestibular function. Onset of retinitis pigmentosa
is in late teens. Autosomal recessive; most common
● Type 3: Progressive hearing loss. Variable vestibular
function. Retinitis pigmentosa begins at puberty. Auto-
somal recessive
● Type 4: Clinically similar to type 2 but with X-linked
recessive inheritance
43
What are the pathologic temporal bone findings
| in patients with Usher syndrome?
Marked atrophy of the organ of Corti in the basal turn
associated with spiral ganglion degeneration. These coch-
lear changes are similar to Scheibe inner ear dysplasia.
44
SNHL, which may be profound at birth or
progressive, and abnormal iodine metabolism typi-
cally resulting in a euthyroid goiter are the classic
manifestations of which congenital disorder?
Pendred syndrome
45
What inner ear abnormalities are found in patients
| with Pendred syndrome?
● Modiolar deficiency and vestibular enlargement (100%)
● Absence of the interscalar septum between the upper
and middle cochlear turns (75%)
● Enlargement of the vestibular aqueduct (80%)
46
What is the most likely diagnosis for a child with
congenital bilateral severe to profound SNHL, pro-
longed Q-T interval, and a history of syncopal events?
Jervell and Lange-Nielson syndrome (autosomal recessive)
47
What is the pathophysiology of the hearing loss in
| patients with Jervell and Lange-Nielson syndrome?
Two genes, KVLQT1 and KCNE1, have been linked to Jervell
and Lange-Nielsen syndrome. These genes encode for
subunits of a potassium channel expressed in the heart and
inner ear. Hearing impairment is due to changes in endolymph
homeostasis caused by malfunction of this channel. Patients
may suffer syncopal events, seizures, and life-threatening
cardiac arrhythmias resulting in sudden death.
48
What are the criteria required for diagnosis of
| Waardenburg syndrome type 1?
Criteria published by the Waardenburg Consortium in 1992:
Patient must have two major criteria or one major plus two
minor criteria for diagnosis of Waardenburg syndrome type I:
Major Criteria:
● Congenital SNHL (up to 60%)
● Iris pigmentary abnormality (two eyes of different colors,
heterochromia iridis; one eye of different colors; segmental
heterochromia; brilliant blue/sapphire iris)
● Hair hypopigmentation (white forelock or white body hair)
● Distopia canthorum (lateral displacement of the inner
canthi, decreased visible sclera medially)
● First-degree relative previously diagnosed with Waar-
denburg syndrome
Minor Criteria:
● Congenital leukodermia (several areas of hypopigmented
skin)
● Synophrys or medial eyebrow flare
● Broad, high, nasal root
● Hypoplastic alae nasi
● Premature graying of hair (white scalp hair before age 30,
generally occurring midline instead of at the temples)
Rare: Hirschsprung disease, Sprengel anomaly, spina bifida,
cleft lip and/or palate, limb defects, congenital heart
anomalies, abnormal vestibular function, broad square jaw,
low anterior hairline.
49
How are Waardenburg syndrome types 2, 3, and
| 4 classified?
All are based on type 1 requiring two major or one major
and two minor criteria
● Type 2: Type 1 without the dystopia canthorum
● Type 3 (or Klein-Waardenburg syndrome): Type 1 with
hypoplasia or contracture of the upper limbs
● Type 4 (or Waardenburg-Shah syndrome): autosomal
recessive or dominant; type 1 with Hirschsprung disease
or other neurologic disorders
50
What gene has been implicated in Waardenburg
| syndrome?
PAX3 is the only gene shown to cause Waardenburg
| syndrome type 1.
51
What is the pathophysiology of the SNHL in
| Waardenburg syndrome?
Waardenburg syndrome is due to a failure of proper
melanocyte differentiation. Melanocytes are required in the
stria vascularis for normal cochlear function.
52
What are the temporal bone abnormalities that
| can occur in Waardenburg syndrome?
● Temporal bone abnormalities occur in approximately 50%
of patients
● Aplasia or hypoplasia of the posterior semicircular canal
(most common finding, seen in 26% of cases)
● Vestibular aqueduct enlargement
● Widening of the upper vestibule
● Iinternal auditory canal (IAC) hypoplasia
● Decreased modiolus size
53
What connective tissue disorder results in hearing
loss, craniofacial anomalies (flat midface, depressed
nasal bridge, short nose, micrognathia, anteverted
nares, cleft palate, or Pierre Robin sequence),
ophthalmologic pathology (high myopia, abnormal
vitreous gel, retinal detachment), and arthropathy
(joint laxity that usually progresses to osteoarthritis)?
Stickler syndrome.
54
What causes hearing loss in Stickler syndrome?
Patients with Stickler syndrome can have high-frequency
SNHL, conductive hearing loss, or a mixed hearing loss. The
mechanism of high-frequency SNHL is unknown. Conduc-
tive hearing loss is typically due to craniofacial abnormal-
ities causing recurrent otitis media with effusion. Ossicular
abnormalities resulting from collagen defects may also
cause conductive hearing loss.
55
Do all the different types of Stickler syndrome
| result in similar degrees of hearing loss?
● Type 1: Normal hearing or mild impairment
● Type 2: Mild to moderate hearing loss
● Type 3: Moderate to severe hearing loss
56
What are the most common genetic mutations
| seen in the three subtypes of Stickler syndrome?
```
Autosomal dominant (rare autosomal recessive subtypes):
● Type 1: COL2A1 → α1 chain of type II collagen (major
component of cartilage, vitreous, and nucleus pulposis);
type 1 vitreous subtype, most common
● Type 2: COL11A1 → α1 chain of type XI collagen; also
seen in Marshall syndrome, type 2 vitreous subtype
● Type 3: COL11A2 → alpha α3 chain of type XI collagen,
no ophthalmologic abnormality
```
57
What are the clinical criteria for BOR syndrome?
BOR syndrome is defined as the presence of
● Three major criteria
● Two major criteria and two minor criteria or
● One major criteria and an affected first-degree relative
Major criteria
● Branchial anomalies (first and second branchial arches)
● Deafness (90%; can be SNHL, conductive hearing loss, or
mixed)
● Preauricular pits/cysts
● Renal anomalies (mild hypoplasia to aplasia)
Minor criteria
● External ear anomalies
● Middle ear anomalies
● Inner ear anomalies
● Preauricular tags
● Facial asymmetry
● Palate abnormalities
58
What are the external ear anomalies seen in BOR
| syndrome?
```
● Preauricular cysts/pits (82%)
● Preauricular tags
● Auricular malformations (32%)
● Microtia
● External auditory canal stenosis or atresia
```
59
What are the middle ear anomalies seen in BOR
| syndrome?
```
● Ossicular malformation
● Facial nerve dehiscence
● Absence of the oval window
● Reduction in size of the middle ear cleft
● ET dilatation
● Absence of the stapedius muscle
```
60
What are the inner ear anomalies seen in BOR
| syndrome?
● Cochlear hypoplasia or dysplasia
● Enlargement of the cochlear or vestibular aqueducts
● Hypoplasia of the lateral semicircular canal
● Deviation of the labyrinthine facial nerve canal medial to
the cochlea
● Funnel-shaped IAC with a large porus acousticus
61
A child has malar hypoplasia, cleft zygoma, colobo-
mas, cleft lip, choanal atresia, malocclusion, and
profound hearing loss. What is the most likely
diagnosis?
Treacher-Collins syndrome
62
What are the otologic manifestations of Treacher
| Collins syndrome?
● Microtia, aural meatal atresia, and conductive hearing
loss caused by ossicular chain malformations
● EAC atresia or replacement of the tympanic membrane
with bony plate
● SNHL and vestibular dysfunction also can be present.
63
What genetic mutation has been identified in most
| cases of Treacher Collins syndrome?
TCOF-1 gene, chromosome 5q31.3–q33.3, protein: treacle.
Autosomal dominant (types 1 and 2). Treacle is important
in the neural crest cells of the branchial arches and may be
responsible for the malformation of branchial arch 1 and 2
seen in this disorder.
64
How is Treacher Collins syndrome differentiated
| from Goldenhar syndrome?
Treacher Collins syndrome has symmetric facies and
| bilateral eyelid colobomas.
65
Mutations in which chromosomes are involved in
| neurofibromatosis type 1 (NF1) and type 2 (NF2)?
● NF1: 17q11.1, NF1 gene, encodes neurofibromin, results
in a loss of function mutation
● NF2: 22q12.2, NF2 gene, encodes merlin (tumor suppressor)
66
What percentage of patients with NF1 and NF2
| have vestibular schwannomas?
● NF1: 5%, usually unilateral
| ● NF2: 95%, usually bilateral
67
True or false: Vestibular schwannomas in NF2 are
managed with observation, surgical intervention, or
stereotactic radiosurgery only.
False. Bevacizumab, an angiogenesis inhibitor, has recently
been shown to improve hearing and shrink tumors in up to
50% of NF2 patients with progressive vestibular schwan-
noma.
68
What are the diagnostic criteria for NF2?
● Bilateral vestibular schwannomas that usually develop by
the second decade of life or a family history of NF2 in a
first-degree relative, plus one of the following:
● Unilateral vestibular schwannomas < 30 years of age
● Any two of the following: meningioma, glioma, schwan-
noma, or juvenile posterior subcapsular lenticular opac-
ities/juvenile cortical cataract
69
A patient has multiple craniofacial defects,
including bicoronal synostosis and maxillary hypo-
plasia, hypertelorism, protruding eyes, high arched
palate, hearing loss from middle ear effusion,
low-set ears, and syndactyly of the hands and feet.
What is the most likely diagnosis?
Apert syndrome
70
What type of hearing loss do people with Apert
| syndrome develop?
Conductive hearing loss, typically from persistent middle
| ear effusions
71
Which genetic mutation accounts for most cases of
| Apert syndrome?
Fibroblast growth factor receptor 2 (FGFR2), autosomal
dominant, important in the growth and differentiation of
mesenchymal and neuroectodermal cells
72
What are the characteristic clinical features of
| Crouzon syndrome?
```
● Craniosynostosis
● Hypoplastic midface
● Exophthalmos
● Hypertelorism
● Mandibular prognathism
```
73
What are the causes of the conductive hearing loss
| seen in patients with Crouzon syndrome?
● Chronic otitis media
● Persistent middle ear effusion
● Tympanic membrane perforation
● Ossicular anomalies
74
What are the diagnostic criteria for Alport
| syndrome?
Patient must have at least three of the following four
characteristics:
● Positive family history of hematuria with or without
chronic renal failure
● Progressive high-tone sensorineural deafness
● Typical eye lesion (anterior lenticonus, macular flecks, or
both)
● Histologic changes of the glomerular basement mem-
brane in the kidney
75
Mutation of what structure(s) impacts the
basement membranes of the eye, kidney, and
cochlea resulting in Alport syndrome?
Type IV collagen
76
Discuss the hearing loss associated with Alport
| syndrome.
Bilateral SNHL can be detected by late childhood, is
symmetric, and begins in the high-frequency ranges. Over
time, it progresses to involve all frequencies over time.
77
What are the features associated with
| otopalatodigital syndrome?
```
● Hypertelorism
● Frontal bossing
● Flat midface
● Small nose
● Cleft palate
● Conductive hearing loss, likely due to ossicular
deformities
● Abnormalities of the fingers and toes
```
78
List the four muscles associated with ET function.
● Tensor veli palatini
● Levator veli palatini
● Salpingopharyngeus
● Tensor tympani
79
What are the three basic functions of the eustachian
| tube?
● Regulation of middle ear pressure
● Clearance of middle ear secretions
● Protection of the middle ear from nasopharyngeal sound
and accumulation of nasopharyngeal secretions
80
What are some of the causes of eustachian tube
| dysfunction?
Anatomical factors (shorter eustachian tubes with a more
horizontal orientation; the eustachian tube reaches adult
length by 7 years of age):
● Adenoid hypertrophy
● Allergy
● Sinonasal disease
● Craniofacial anomalies (e.g., cleft palate, Down
syndrome)
● Neoplasm
● Extraesophageal reflux
● Genetic predisposition
81
What are the two general causes of negative
pressure in the middle ear leading to middle ear
diseases (i.e., retraction pockets, chronic otitis
media, and atelectasis of the tympanic membrane)?
Negative middle ear pressure is caused by failure of the
eustachian tube to open as a result of
● Physical obstruction: Adenoid hypertrophy, tumor,
stenosis, hypertrophy/edema of mucosa lining the
eustachian tube
● Physiologic obstruction: Failure of muscles involved in
opening the Eustachian tube
82
What causes eustachian tube dysfunction in
| patients with cleft palate?
● Abnormal course and insertion of the tensor veli palatini
and levator veli palatini into the posterior margin of the
hard palate
● Abnormal shape and development of the cartilaginous
portion of the eustachian tube
83
What are the most common chronic ear diseases
| seen in children?
```
● Chronic otitis media
● Chronic suppurative otitis media, with and without
cholesteatoma
● Chronic mastoiditis
● Tympanosclerosis
● Cholesterol granuloma
```
84
What is the definition of recurrent acute otitis
| media (AOM)?
Three or more documented and separate episodes of AOM
in the previous 6 months, or at least four documented and
separate episodes in the previous 12 months, with at least
one in the prior 6 months
Note: Persistent AOM refers to the persistence of signs/
symptoms of AOM during antimicrobial therapy, signifying
treatment failure, or relapse within 1 month (which may be
difficult to differentiate from recurrent AOM)
85
What is the definition of chronic otitis media with
| effusion?
Middle ear effusion without signs or symptoms of acute ear
infection for more than 3 months since the date of onset or
date of diagnosis
86
What is the definition of chronic suppurative otitis
| media?
Chronic inflammation of the middle ear and mastoid
mucosa in which the tympanic membrane is not intact
(perforation or tympanostomy tube) and discharge is
present
87
What are the most common pathogens causing
| acute otitis media?
```
Streptococcus pneumoniae (31.7%)
Non-typable Haemophilus influenzae (28.4%)
Moraxella catarrhalis (13.9%)
```
88
For infants with acute otitis media, when should
antibiotics be initiated immediately and when
should one offer an initial period of observation?
Immediate oral antibiotic therapy: If the child is younger
than 6 months; if the child has severe signs/symptoms
(e.g., moderate or severe ear pain, ear pain > 48 hours,
temperature > 39oC or 102.2oF); and if the child is younger
than 24 months and has bilateral AOM
Observation or oral antibiotics: If the infant is aged 6 to 24
months and has nonsevere unilateral AOM and if the child is
younger than 24 months and has nonsevere unilateral or
bilateral AOM
Note: Pain control with ibuprofen and/or acetaminophen is
also important.
89
What are the antibiotics of choice for acute otitis
| media?
First line: Amoxicillin
β-lactam resistance (i.e., patient has received a β-lactam
antibiotic in the previous 30 days, has concomitant purulent
conjunctivitis [commonly Haemophilus influenza], or has a
history of resistance to amoxicillin): Amoxicillin-clavulanate.
Penicillin allergy: Macrolides (e.g., azithromycin, clarithro-
mycin, erythromycin) or clindamycin. Macrolides are not
effective against H. influenza.
90
When should an audiogram be obtained in
| children with middle ear disease?
Clinical practice guideline 2013: Tympanostomy tubes in
children:
An age-appropriate hearing test should be obtained if otitis
media with effusion (OME) is present for 3 months or longer
or before surgery when the child meets the criteria for
tympanostomy tube placement.
91
When should tympanostomy tubes not be recom-
| mended in children with middle ear disease?
Clinical practice guideline 2013: Tympanostomy tubes in
children:
Single episode of otitis media with effusion of less than 3
months’ duration
Recurrent episodes of acute otitis media without middle ear
effusion in either ear at the time of evaluation for possible
tube placement
92
When are tympanostomy tubes (TTs) indicated for
| children with middle ear disease?
Clinical practice guideline 2013: Tympanostomy tubes in
children:
● Bilateral TTs should be offered to children with bilateral
OME for 3 months or longer (chronic OME) and
documented hearing difficulties.
● Bilateral or unilateral TTs may be offered to children with
unilateral or bilateral OME for 3 months or longer
(chronic OME) and symptoms that are likely related to
OME, which include, but are not limited to, vestibular
problems, poor school performance, behavior problems,
ear discomfort, or reduced quality of life.
● Bilateral or unilateral TTs should be offered to children
with recurrent acute OME at evaluation.
● Bilateral or unilateral TTs may be offered to at-risk
children* with unilateral or bilateral OME that is unlikely
to resolve quickly (flat, type B tympanogram; chronic
OME)
*At risk: Recurrent acute otitis media (AOM) or with OME of
any duration in a child at increased risk for speech,
language or learning problems, from otitis media due to
baseline sensory, physical, cognitive or behavioral factors
93
How long should you recommend water precautions
| after placing tympanostomy tubes in a child?
Clinical practice guideline 2013: Tympanostomy tubes in
children:
Clinicians should not encourage routine, prophylactic water
precautions (use of ear plugs, headbands; avoidance of
swimming or water sports) for children with tympanostomy
tubes.
94
What are the treatment options for chronic ear
disease, which requires more aggressive
intervention than tympanostomy tubes?
```
The least invasive approach to achieving a safe ear include
the following options:
● Tympanoplasty
● Atticotomy
● Intact canal wall tympanomastoidectomy
● Canal wall down tympanomastoidectomy
● Modified radical mastoidectomy
● Radical mastoidectomy
```
95
What are the classifications of acquired
| cholesteatoma?
● Primary acquired cholesteatoma: Occurs without evidence
of preexisting perforation or infection and may arise in
the pars flaccida.
● Secondary acquired cholesteatoma: Occurs as a result of
traumatic or iatrogenic perforation or infection, arises in
the pars tensa (most commonly in the posterior superior
quadrant) or in an area of prior trauma.
96
What is a congenital cholesteatoma?
A congenital cholesteatoma is an epidermal inclusion cyst in
the middle ear without any history of prior otorrhea,
tympanic membrane perforation, or previous surgery on
the ear. The examination should reveal an intact pars tensa
and pars flaccida. The mass is most often located in the
anterior superior quadrant of the pars tensa.
97
Discuss the "invasion theory" for congenital
| cholesteatoma.
Ectodermal cells within the developing external auditory
canal migrate through the tympanic isthmus into the
middle ear and form the substrate for the congenital
cholesteatoma.
98
Discuss the "ectodermal rest theory" for congenital
| cholesteatoma.
Remnants of ectodermal tissue found normally in the
middle ear of the developing fetus persist to form the
congenital cholesteatoma.
99
What are the three most common surgical proce-
dures for removal of cholesteatoma in the pediatric
population?
Same as for the adult population:
● Tympanoplasty
● Canal wall-up tympanomastoidectomy
● Canal wall-down tympanomastoidectomy
100
What is included in the differential diagnosis for a
| child with vertigo and normal hearing?
```
● Whiplash
● Basilar artery migraine
● Seizures
● Posterior fossa tumor
● Benign paroxysmal vertigo of childhood
● Traumatic head injuries
● Ocular or ophthalmological disorders
● Enlarged vestibular aqueduct syndrome
```
101
What are the features of benign paroxysmal
| vertigo of childhood (BPVC)?
Spells of vertigo and disequilibrium without tinnitus or
| hearing loss. Children often subsequently develop migraines.
102
What is included in the differential diagnosis for a
| child with vertigo and hearing loss?
```
● Otitis media or a suppurative complication such as
labyrinthitis
● Perilymphatic fistula
● Inner ear congenital malformation
● Metabolic abnormality
● Vestibular neuronitis
● Congenital infection
● Ménière disease
```
103
What is the treatment for Ménière disease in the
| pediatric patient population?
Same treatment as for adults:
● Salt- and caffeine-restricted diet
● Weight-dosed diuretics
104
What are the diagnostic criteria required for
| migraine-associated vertigo?
Episodic vestibular symptoms
● Migraine according to International Headache Society
criteria
● At least one of the following migraine-related symptoms
during at least two vertiginous attacks: migrainous
headache, photophobia, phonophobia, visual or other
auras
● Other causes ruled out by appropriate investigations
105
How is migraine-associated vertigo differentiated
| from Ménière disease?
● Migraine-associated vertigo: Vertigo may last longer than
24 hours, SNHL is uncommon and rarely progressive,
tinnitus is rarely obstrusive, and photophobia is often
present.
● Ménière disease: Vertigo can last up 24 hours but not
longer, SNHL is generally progressive, tinnitus is intense,
and photophobia is never present.
106
What type of migraine manifests with aura and
consists of two or more of the following symptoms:
vertigo, tinnitus, decreased hearing, ataxia, dysarth-
ria, visual symptoms in both hemifields of both eyes,
diplopia, bilateral paresthesias or paresis, decreased
level of consciousness, followed by a throbbing
headache, and occurs most commonly in female
teenagers.
Basilar migraine. Also known as Bickerstaff syndrome.
107
Describe the condition of vertiginous seizures.
Dizziness may occur as an aura, followed by typical features
of an epileptic seizure, or vertigo may occur as the only
feature of the seizure.
108
What autosomal dominant syndrome is
characterized by chronic episodic vertigo and
ataxia and may include diplopia, dysarthria, tinnitus,
and paresthesias?
Familial ataxia syndrome. Treated with acetazolamide.
109
How can congenital facial paralysis be classified?
● Traumatic versus developmental
● Unilateral versus bilateral
● Complete versus incomplete
110
What is the difference between congenital and
| developmental facial paralysis?
Congenital/traumatic: Conditions acquired at or during
birth (e.g., birth trauma, etc.)
Developmental: Abnormalities that occur during fetal
development either in isolation or as a component of a
named syndrome (e.g., Möbius, Goldenhar, CHARGE, etc.)
111
Why is it important to differentiate between
traumatic congenital facial palsy and developmental
facial palsy?
Most traumatic cases of congenital facial palsy recover
spontaneously, whereas developmental causes generally
carry a poor prognosis. Also important for medicolegal
reasons.
112
What is the most common cause of unilateral
| neonatal facial paralysis?
Birth trauma
113
What are risk factors for traumatic facial nerve
| paralysis?
● Forceps-assisted delivery
● Birth weight > 3,500 g
● Primiparity
● Prolonged labor
114
What clinical examination findings might suggest
birth trauma as the cause of unilateral facial
palsy in a newborn?
Asymmetric crying facies, hemotympanum, periauricular
| ecchymosis, facial swelling, other injuries
115
Describe the topographic tests available for facial
| nerve disorders.
● Supranuclear, nuclear, infranuclear, cerebellopontine an-
gle facial nerve fibers: Central neurologic examination, CT
scan
● IAC facial nerve fibers: Electroneurography (ENG),
audiologic examination, CT scan
● Geniculate ganglion, greater superficial petrosal nerve:
Schirmer test (tear test)
● Tympanomastoid facial nerve fibers: Stapedial reflex test,
salivation
● Extracranial facial nerve fibers: Facial movement
116
What is the test of choice for evaluating
| congenital facial palsy?
Electroneuronography (ENOG) (test of choice):
● Quantitative evaluation of nerve degeneration
● Within 48 hours of traumatic injury, the ENOG is
generally normal (can take up to 4 days for the
extracranial nerve fibers to demonstrate dysfunction).
● ENOG is generally absent or weak in developmental facial
palsy as a result of long-standing nerve hypoplasia or
aplasia.
● If deterioration is greater than 90%, surgical decom-
pression may be considered; however, most authorities
recommend waiting 5 weeks with newborns.
Other tests include the nerve excitability test, maximum
```
stimulation threshold, electromyography, and topodiag-
nostic tests (rarely used).
```
117
Anomalies associated with developmental facial
| palsy can be placed into what four categories?
● Aplasia or hypoplasia of the cranial nerve nuclei
● Nuclear agenesis
● Peripheral nerve anomalies (aplasia, hypoplasia, bifurca-
tion or anomalous course)
● Primary myopathy
118
Which teratogens are associated with
| developmental facial palsies?
Ethanol, 13-cisretinoic acid, methotrexate, ionizing radia-
| tion, thalidomide
119
What congenital syndrome involves a range of
clinical abnormalities that include bilateral or unilat-
eral facial and/or abducens nerve palsies, as well as
multiple cranial neuropathies involving the hypo-
glossal, vagus, and glossopharyngeal nerves? This
```
syndrome may also be associated with lower ex-
tremity abnormalities (club foot), mental retardation,
```
external ear deformities, and ophthalmoplegia.
Möbius syndrome
120
What is the cause of Möbius syndrome?
Studies have suggested a high incidence of vascular insults
in utero. Several reports of teratogenic exposure (miso-
prostol, cocaine, ergotamine) resulting in vascular insults
have been associated with Möbius syndrome.
121
Are facial nerve palsies a component of hemifacial
| microsomia?
Yes. It is also known as oculoauriculovertebral dysplasia or
hemifacial microsomia and involves defects in first and
second branchial arch derivatives. Patients frequently have
hearing loss, and up to 50% have facial nerve dysfunction.
122
Name the autosomal recessive disorder of bone
metabolism that results in osteopetrosis of the
internal auditory canal and compressive
neuropathies of the facial and vestibulocochlear
nerves.
Albers-Schoenberg disease
123
What is the mildest form of developmental facial
palsy that results from unilateral absence or hypo-
plasia of the depressor anguli oris muscle and is
associated with cardiovascular congenital anomalies?
Congenital lower-lip palsy (asymmetric crying facies)
124
How often is developmental facial palsy a part of
| the CHARGE syndrome?
Around 75% of patients have at least one cranial neuro-
pathy, and of these, up to 60% may have a developmental
facial palsy.
