Pediatrics

Question 1

Pediatric Eustachian tube

Answer 1

Shorter length, less acute angle of orientation compared to adults. About 50% of adult length at birth.

• Allows micro-organisms from nasopharynx to gain access to middle ear space
• Tensor veli palatini develops with time to open tubal lumen more efficiently

Question 2

Congenital membranous malformations of the inner ear

Answer 2

• Bony labyrinth is unaffected and CT of the inner ear is normal.
• Scheibe aplasia or cocheosaccular dysplasia is most common membranous malformation
• Complete membranous labyrinthine dysplasia (rare) associated with Jervell and Lange-Nielsen and Usher syndromes
• Alexander dysplasia: cochlear basal turn dysplasia; high frequency SNHL

Question 3

Michel aplasia

Answer 3

Absence of the cochlea and labyrinth; cessation of the otic capsule at the third week of development

Question 4

Mondini malformation (incomplete partition malformation)

Answer 4

• A cochlea with 1.5 turns with cystic middle and apical turns (absent interscalar septum)
• Most common cochlear malformation
• Associated with enlarged vestibular aqueduct
• Can be seen in Pendred syndrome
• Predisposition to meningitis
• Variable degrees of SNHL

Question 5

Visual reinforcement audiometry

Answer 5

Child must be at least 6 months correct age and must be able to see visual stimuli about 3 feet away

Question 6

Conditioned play audiometry

Answer 6

Children 2-2.5years

- Child responds to auditory stimulus with a conditioned play paradigm (drop a block in a bucket when they hear a sound)

Question 7

Standard audiometry

Answer 7

Child must be 4-5 years or older

Question 8

Three most common branchial anomalies in order of frequency

Answer 8

• 70-95%: second branchial arch anomalies
• 8-10%: first branchial arch anomalies
• 3-10%: third and fourth branchial arch anomalies

Question 9

What branchial cleft anomaly involves the facial nerve?

Answer 9

First branchial cleft anomaly tracts are close to the parotid (particularly superficial lobe). The tract may pass above, between or below the branches of the facial nerve.

Question 10

Second branchial arch structure that normally regresses during development but may be associated with hearing loss and pulsatile tinnitus in the adolescent or adult?

Answer 10

Stapedial artery

Question 11

First branchial arch derivatives

Answer 11

Cranial nerve: V3
Muscular contributions: muscles of mastication (temporalis, masseter, pterygoids), mylohyoid, anterior belly of digastric, tensor veli palatini, tensor tympani
Arteries: maxillary, external carotid
Skeletal elements: meckel cartilage: mandible, malleus head and neck, incus body and short process, anterior malleolar ligament, premaxilla, sphenomandibular ligament, maxilla, zygoma, parts of the temporal bone

Question 12

Second branchial arch derivatives

Answer 12

Cranial nerve: VII
Muscular contributions: muscles of facial expression, posterior belly of digastric, stylohyoid, stapedius
Arteries: stapedial (normally regresses)
Skeletal elements: Reichert cartilage: manibrium of malleus, long and lenticular process of incus, stapes suprastructure, styloid process, stylohyoid ligament, lesser horns of hyoid, upper body of hyoid

Question 13

Third branchial arch derivatives

Answer 13

Cranial nerve: IX
Muscular contributions: stylopharyngeus, superior and middle constrictors
Arteries: Common and internal carotid
Skeletal elements: greater horns and lower body of hyoid

Question 14

Fourth branchial arch derivatives

Answer 14

Cranial nerve: X (superior larngeal)
Muscular contributions: Cricothyoid, intrinsic muscles of soft palate including levator veli palatini
Arteries: aortic arch, right subclavian, branchiocephalic
Skeletal elements: thyroid, cuneiform cartilages

Question 15

Sixth branchial arch derivatives

Answer 15

Cranial nerve: X (recurrent)
Muscular contributions: Intrinsic muscles of larynx (except cricothyroid)
Arteries: ductus arteriosus, pulmonary artery on right
Skeletal elements: cricoid, arytenoid, corniculate cartilages

Question 16

Where is the proximal opening of a second branchial cleft anomaly?

Answer 16

Tonsillar fossa (may enter the pharynx close to the middle constrictor)

Question 17

Symptoms associated with persistent stapedial artery

Answer 17

Pulsatile tinnitus, asymptomatic incidental finding, conductive hearing loss, SNHL, erosion of otic capsule (rare), may be associated with additional vascular anomalies

Question 18

Pathway of third branchial arch anomaly

Answer 18

Piriform sinus of the hypopharyx -> through the inferior constrictor muscle medially and through thyrohyoid membrane -> greater cornu of the hyoid bone, lateral to the SLN -> over the hypoglossal nerve (superficial to) -> inferior to the glossopharyngeal nerve ( deep to)-> posterior to ICA ->fistula opens to the skin over the anterior border of the SCM

Question 19

Pathway of fourth branchial arch anomaly

Answer 19

Piriform sinus of the hypopharynx -> medial to the SLN-> tracheoesophageal groove, parallel to RLN into mediastinum -> under aortic arch (left) or subclavian (right) -> ascends along posterior surface of common carotid (deep to) ->anterior border of SCM

It can also follow the common carotid to the bifurcation-> between the ECA and ICA -> below glossopharyngeal -> above hypoglossal-> descends inferiorly to exit anterior to SCM

Question 20

Pathway of second branchial arch anomaly

Answer 20

Tonsillar fossa -> lateral to glossopharyngeal (superficial to CN XI and XII)-> between ICA and ECA -> under hypoglossal -> anterior border of SCM

Question 21

Clinical presentations of third and fourth branchial cleft anomalies?

Answer 21

Both may be noted as soft fluctuant mass, abscess or draining tract located along anterior border of SCM. Acute suppurative thyroiditis can be seen. Stridor may be present.

Question 22

Typical findings in a patient with branchio-otorenal syndrome

Answer 22

• Autosomal dominant syndrome
• Malformed external ears, also middle and inner ear anomalies
• Preauricular pits
• Conductive, sensorineural or mixed hearing loss
• Renal anomalies ranging from mild hypoplasia to complete agenesis
• Individuals with ear pits and branchial defects warrant a renal ultrasound
• Mutations in the EYA1 gene

Question 23

At which cervical vertebral level is the cricoid cartilage in an infant located and how does it change as the child grows?

Answer 23

C4 and the cricoid descends to C7

Question 24

Why is the thyroid notch not a palpable landmark for tracheotomy in infants?

Answer 24

Infants have a shortened thyrohyoid membrane so the hyoid bone is located anterior to the thryoid notch, obscuring the thryoid notch as a landmark for tracheostomy

Question 25

Diameter of the subglottis in a full term infant

Answer 25

5-7mm (<4mm indicates subglottic stenosis)

Question 26

Dimension of the trachea in a full term infant

Answer 26

4cm long x 6mm wide

Question 27

Ratio of cartilaginous to membranous trachea in an infant

Answer 27

4.5:1

Question 28

What additional anomaly should be looked for in a patient with a complete vascular ring?

Answer 28

Vascular sling

Question 29

What is the first paranasal sinus to develop embryologically?

Answer 29

Maxillary sinuses begin developing at 3 weeks of fetal life and are partially pneumatized at birth. Reach full size by age 16

Question 30

Which sinuses are the last to pneumatize?

Answer 30

Frontals - earliest pneumatization occurs at or shortly after 2 years of age

Question 31

When do inner ear structures reach full adult size?

Answer 31

They begin developing at 4 weeks gestation and reach adult size by 6 months gestation

Question 32

What age would you expect inner ear malformation to develop in a fetus?

Answer 32

4-13 weeks (first trimester)

Question 33

When does the auricle achieve adult form?

Answer 33

18 weeks gestation. However, it continues to grow in childhood with changes continuing into late adult life. Adult width and length are achieved at different times. Width: age 6 years in females and 7 yrs in males. Length: 12 in females and 13yrs in males. 90% of adult size is reached by age 5-8

Question 34

Orbital size is what percentage of the adult size at birth?

Answer 34

60-65%. This is also the case for the length and width of the cranium. The optic nerve and eye are extensions of the brain and follow brain growth (reaches adult size by 2-3 years) rather than growth of the facial skeleton.

Question 35

CHARGE

Answer 35

``` C - coloboma H - heart defect A - Atresia, choana R - Retarded growth and development G - Genital hypoplasia E - Ear anomalies/hearing loss (Mondini malformation) ```

Question 36

Poor prognostic factors in patients with CHARGE

Answer 36

midline malformations, esophageal atresia, bilateral choanal atresia

Question 37

Gene involved in CHARGE

Answer 37

CHD7 gene (member of chromodomain helicase DNA protein family), chromosome 8q12 in 5% of patients with CHARGE

Question 38

Head and neck anomalies related to CHARGE

Answer 38

Choanal atresia, ear abnormalities, hearing loss, facial nerve palsy, pharyngoesophageal dysmotility, laryngomalacia, VF paralysis, OSA, tracheoesophageal fistula, GERD, T bone abnormalities

Question 39

Incidence of choanal atresia in patients with CHARGE

Answer 39

> 65%, >2/3 bilateral. If unilateral left > right

Question 40

VACTERL

Answer 40

V - Vertebral defects A - Anal atresia C - Cardiac malformations TE - Tracheoesophageal fistula with esophageal atresia R - Renal dysplasia L - Limb anomalies (commonly radial anomalies)

Question 41

What percentage of patients with VACTERL have TE fistula?

Answer 41

50-80%

Question 42

Major clinical characteristics in patients with velocaridofacial syndrome?

Answer 42

Clefting of the secondary palate, hypernasal speech, pharyngeal hypotonia, structural heart anomalies, dysmorphic facial appearance, slender hands and fingers, learning disabilities, medialized internal carotid arteries may be present (requires contrast imaging before pharyngeal surgery)

Question 43

What chromosomal anomaly is associated with velocardiofacial syndrome?

Answer 43

80-100% have hemizygous deletion of chromosome 22q11 Autosomal dominant but most patients present denovo

Question 44

Factors that lead to velopharyngeal insufficiency in patients with velocardiofacial syndrome?

Answer 44

Cleft palate, hypotonia of the pharyngeal muscles, platybasia (an obtuse angulation of the cranial base), small adenoid pad

Question 45

Clinical features of Stickler syndrome

Answer 45

Micrognathia leading to Pierre Robin sequence, hypermobility, enlargement of joints associated with onset of arthritis in early adulthood, myopia, retinal detachment, cataracts and hearing loss (SNHL, conductive or mixed)

Question 46

Genetic mutation in Stickler syndrome

Answer 46

COL2A1, COL9A1, and COL11A2. These genes are involved in the production of type II, type IX and XI collagen, which are components of vitreous, cartilage and other connective tissue.

Question 47

Different types of Stickler syndrome

Answer 47

Type I: autosomal dominant, mutations in the COL2A1 gene are most common Type 2: Autosomal dominant, mutations in COL11A1 Type 3: Autosomal dominant, no ocular abnormalities because COLIIA2 which is the mutation is not present in vitreous Type 4: Autosomal recessive, mutations in COL29A1

Question 48

Clinical findings in Pierre Robin sequence

Answer 48

Micrognathia, glossoptosis, wide U shaped cleft palate, leading to upper airway obstruction and feeding difficulties

Question 49

Embryology of Pierre Robin sequence

Answer 49

Arrest in mandibular development at 7-11 weeks of gestation (micrognathia) causes tongue to set abnormally high and posteriorly in the oral cavity (glossoptosis). This prevents fusion of the palatal shelves at 11 weeks and results in U shaped cleft palate

Question 50

Most common syndromes associated with Pierre Robin

Answer 50

- Stickler syndrome - Treacher Collins - Velocardiofacial syndrome - Fetal alcohol syndrome - Mobius syndrome - Nager syndrome - Beckwith Wiedemann syndrome

Question 51

How often is Pierre Robin associated with a syndrome

Answer 51

80%

Question 52

Causes of acute suppurative sialadenitis in premature neonates

Answer 52

- Reduction in salivary flow - Immunologic immaturity - Presence of bacteria in oral cavity of neonates - Dehydration - Prolonged orogastric feeding - Congenital anomalies of the floor of mouth

Question 53

Treatment for acute suppurative sialadenitis in premature neonates

Answer 53

Hydration and antimicrobial therapy should lead to response within 48-72 hours. Gland manipulation should be avoided in preterm children to reduce the risk of systemic septicemia. If no satisfactory improvement then I&D

Question 54

Causes of pediatric viral sialadenitis

Answer 54

EBV, parainfluenza, adenovirus, HHV-6, HIV, coxsackivirus, mumps, influenza

Question 55

What organ systems are involved in patients with mumps

Answer 55

Parotid, submandibular glands (diffuse tender enlargement), gonads, pancreas, meninges

Question 56

Classic triad of symptoms seen with infectious mono

Answer 56

80% have fever, sore throat and posterior cervical adenopathy that can involve the periparotid or perifacial (submandibular) lymph nodes with subsequent involvement of adjacent glands

Question 57

HIV associated benign lymphoepithelial cysts

Answer 57

Occur in up to 10% of HIV positive children, often early in course of HIV infection with slowly progressive asymptomatic parotid gland enlargement and often associated with cervical lymphadenopathy. Cysts are usually bilateral (80%), multiple (up to 90%) and involve the superficial lobe of parotid.

Question 58

Most common pathologies causing granulomatous inflammation of major salivary glands?

Answer 58

Actinomycosis, tuberculosis, atypical mycobacterial infections, sarcoidosis

Question 59

What bacteria are associated with non TB mycobacterial infections of the salivary glands?

Answer 59

Mycobacterium avium intracellulare (70-90%), M. bovis, M. kansaii, M. scrofulaceum

Question 60

Heerfordt syndrome

Answer 60

Uveoparotid fever - uveitis, parotid enlargement, facial paralysis. Symptoms include fever, malaise, weakness, nausea, night sweats. Evaluation includes CXR looking for hilar adenopathy and an acetylcholinesterase level. Biopsy of lip or tail of parotid may confirm diagnosis

Question 61

Juvenile recurrent parotisis

Answer 61

- Characterized by recurrent episodes of nonobstructive, nonsuppurative unilateral (60%) or bilateral (40%) parotid inflammation - Peak incidence between ages 3-6 with male predominance. Diagnosis made on clinical basis and confirmed with US or sialography which shows pathognomonic sialectasis (intraductal cystlike dilation).

Question 62

Most common benign pediatric tumors of the parotid gland

Answer 62

Parotid gland hemangiomas (50%)

Question 63

Discuss development and natural history of pediatric parotid gland hemangiomas

Answer 63

May be part of segmental V3 hemangioma or they may be isolated focal hemangiomas. They occur at birth or shortly thereafter and act like other hemangiomas, undergoing rapid proliferative phase followed by involution

Question 64

First line treatment for parotid hemangiomas

Answer 64

Oral propranolol

Question 65

Two most common maxillofacial fractures in children

Answer 65

Nasal bone and mandibular fractures

Question 66

Why do infants diagnosed with obstructive septal deviation after nasal trauma require urgent evaluation?

Answer 66

They are obligate nasal breathers

Question 67

When should pediatric nasal fractures be reduced?

Answer 67

Reduction should be done either within 3-6 hours of injury, before the onset of swelling or 3-10 days after the injury. If reduction cannot happen immediately than evaluate 3-7 days after injury when edema has subsided

Question 68

Ddx for congenital midline mass

Answer 68

- Dermoid (most common) - Glioma - Encephalocele - Epidermoid cysts - Hemangioma - Teratoma - Neurofibroma - Lipoma - Lymphangioma

Question 69

Nasal dermoid

Answer 69

Midline nasal epithelial lined cyst, sinus or tract that forms as result of regression of the embryologic neuroectrodermal tract pulling skin elements into the prenasal space. It contains keratin debris, hair follicles, sebaceous glands and sweat glands.

Question 70

Clinical findings in a patient with a nasal dermoid cyst

Answer 70

- More often in males than females - Noncompressible mass - Furstenberg sign is negative (no enlargement with compression of jugular veins) - Firm and nontender, solitary and rubbery - Does not transilluminate - Midline, commonly along dorsum which may be widened - Can be intranasal, extranasal or intracranial - May have sinus opening with intermittent discharge - Hair protruding through punctum is pathognomonic but not commonly seen

Question 71

How often do nasal dermoids extend intracranially?

Answer 71

~25% of cases. They most often communicate through the foramen cecum or cribiform plate to the base of the frontal fossa with extradural adherence to the falx cerebri and are associated with an increased risk of meningitis

Question 72

What radiographic findings suggest a nasal dermoid with intracranial extension?

Answer 72

- Bifid crista galli - Enlarged foramen cecum (defect in the anterior skull base at the apex of the prenasal space that normally closes after a dural diverticulum retracts from the prenasal space into the cranium)

Question 73

Nasal glioma

Answer 73

Congenital nasal anomaly consisting of ectopic glial tissue that lacks a patent CSF communication to the subarachnoid space but in 15-20% maintains a fibrous affiliation

Question 74

How do nasal gliomas form?

Answer 74

Theories: - Abnormal closure of fronticulus frontalis isolating brain tissue from intracranial cavity - Nidus of ectopic neuroepithelia - An outgrowth of olfactory tissue through the cribiform plate

Question 75

Clinical presentation of nasal gliomas?

Answer 75

Extracranial (60%): smooth, firm, noncompressible masses that occur most commonly at the glabella although may arise along side of nose or nasomaxillary suture line Intranasal (30%): polypoid pale masses that arise from the lateral nasal wall near the middle turbinate and occasionally from the nasal septum and can protrude from the nostril Combined (10%) Intracranial extension (15%) Negative furstenberg

Question 76

what congenital nasal anomaly consists of an extracranial herniation of the cranial contents through a defect in the skull? Meninges only? Brain matter and meninges?

Answer 76

Encephalocele, meningocele, meningoencephalocele respectively

Question 77

How are nasal encephaloceles classified?

Answer 77

Location of the skull base defect: - Sincipital (60%): arise between the frontal and ethmoid bones at the foramen cecum, immediately anterior to the cribiform plate - Basal (40%): Arise between the cribiform plate and the superior orbital fissure or posterior clinoid fissure. Most common congenital encephaloceles are occipital (75%)

Question 78

Subtypes of sinciptial encephaloceles

Answer 78

- Nasofrontal: defect is located at the glabella between the nasal and frontal bones. Causes telecanthus and inferior displacement of nasal bones. - Nasoethmoidal: sax exits through the foramen cecum, passing under the nasal bones and above the upper lateral cartilages, creating a lateral nasal mass. Results in superior displacement of nasal bones and inferior displacement of alar cartilages - Nasoorbital: sac traverses the foramen cecum before extending into the orbit via a defect in its medial wall

Question 79

Subtypes of basal encephaloceles?

Answer 79

- Transethmoidal: most common, unilateral nasal mass or hypertelorism - Sphenoethmoidal - Transsphenoidal: associated with cleft palate - Sphenoorbital: unilateral exophthalmos or diplopia

Question 80

Common clinical findings associated with encephaloceles?

Answer 80

- Bluish/red mass that is soft and compressible - Positive Furstenburg test (expands with compression of IJ) - Pulsatile - Does transilluminate

Question 81

What imaging is best for diagnosis and surgical planning of encephalocele?

Answer 81

CT and MRI

Question 82

Four hypotheses to explain development of choanal atresia

Answer 82

- Buccopharyngeal membrane persistence - Abnormal neural crest cell migration - Bucconasal membrane persistence - Adehesion formation in the nasochoanal region as a result of abdnormal mesoderm

Question 83

Clinical features of choanal atresia

Answer 83

- 1:5000-8000 live births - 75% unilateral, right> L - 2:1 female to male - 50% with unilateral atresia and up to 75% with bilateral have other associated congenital anomalies - Bony 30%, membranous 70%

Question 84

Anatomic features of choanal atresia

Answer 84

- Narrow nasal cavity - Lateral bony obstruction by the pterygoid plates - Medial obstruction caused by thickening of the vomer - Membranous or bony obstruction

Question 85

What syndromes are associated with choanal atresia?

Answer 85

- CHARGE - FGFR related craniosynostosis syndromes (Crouzon, Pfeiffer, Apert, Jackson Weiss, Muenke, Antley Bixler0) - Down syndrome - Treacher Collins - Solitary medianmaxillary central incisor

Question 86

At what age are most infants no longer obligate nasal breathers?

Answer 86

6-9 months

Question 87

Definitive diagnosis for choanal atresia

Answer 87

CT scan

Question 88

What symptoms might suggest congenital nasal pyriform aperture stenosis

Answer 88

Respiratory distress, poor feeding, failure to thrive, recurrent cycles of cyanosis and apnea

Question 89

What causes congenital nasal pyriform aperture stenosis?

Answer 89

Bony overgrowth of medial nasal process of the maxilla into the nasal aperture resulting in a pyriform aperture smaller than 11mm

Question 90

Congenital anomalies associated with congenital nasal pyriform aperture stenosis

Answer 90

- holoprosencephaly | - solitary median maxillary central incisor syndrome

Question 91

Syndromes associated with congenital anosmia

Answer 91

- Kallmann syndrome - Congenital insensitivity to pain - Ciliopathies including Bardet-Biedle syndrome and Leber congenital amaurosis

Question 92

Most common site of obstruction causing nasolacrimal duct cysts (dacrocystoceles)?

Answer 92

Inferior meatus (membrane of Hasner) Recanalization of the nasolacrimal duct occurs from the lacrimal system inferiorly

Question 93

Symptoms associated with dacrocystoceles?

Answer 93

Epiphora (tearing), nasal obstruction, respiratory distress in neonates (obligate nasal breathers), aspiration, feeding difficulties

Question 94

First line therapy for nasolacrimal duct cyst

Answer 94

Massage

Question 95

Surgical treatment of nasolacrimal duct cyst

Answer 95

Endoscopic marsupialization (opening the cyst into the inferior meatus). Ophthalmology may place stents.

Question 96

Rathke cleft/pouch cyst

Answer 96

A non-neoplastic sellar/suprasellar epithelial lined cyst. Form during embryological development from a developmental precursor of the pituitary gland called the Rathke's pouch. During week 4 a pouch forms along dorsal stomodeum. During week 5, the infundibular stalk and this pouch come into contant and the opening of the pouch is occluded at the buccopharyngeal junction and is separated from the oral cavity by week 6. The pituitary gland develops from anterior wall of the pouch (pars distalis) and a small portion of the posterior wall of the pouch (pars intermedia). Normally the remnant pouch lumen is obliterated.

Question 97

How do Rathke pouch cysts commonly manifest?

Answer 97

During 5th or 6th decade with female predominance. Usually asymptomatic but large lesions can cause visual disturbances, pituitary dysfunction and or headaches. Can be seen on MRI.

Question 98

Tumor derived from Rathke pouch

Answer 98

Craniopharyngioma

Question 99

Thornwaldt cyst

Answer 99

Benign cyst/bursa that forms in the cleavage plane between the nasal cavity and the pharynx as a result of obstruction, inflammation or infection of the pharyngeal bursa. Formed by a communication between the notochord and the nasopharyngeal endoderm

Question 100

Predominant pathogens in acute pediatric sinusitis

Answer 100

``` Strep pneumoniae (25-30%) Haemophilus influenzae (15-20%) Moraxella catarrhalis (15-20%) ```

Question 101

What three risk factors are likely to increase the resistance of organisms to amoxicillin in both acute bacterial sinusitis and acute otitis media in a child?

Answer 101

- Day care or child care attendance - Antibiotic treatment within previous 30 days - Age < 2

Question 102

Diagnostic criteria for pediatric chronic sinusitis

Answer 102

- One or more symptoms of sinusitis >12 weeks - Six or more episodes of acute sinusitis a year - Acute exacerbations without complete resolution between episodes

Question 103

What primary immunodeficiencies are associated with chronic sinusitis

Answer 103

- Common variable immunodeficiency - Immunoglobulin (IgA) deficiency - IgG subclass deficiencies, commonly IgG3 deficiency (important for defense against Moraxella catarrhalis and Strep pyogenes)

Question 104

Ddx for congenital neck mass

Answer 104

``` Lateral neck masses: - Branchial anomaly - Laryngocele - Thymic cyst - Pseudotumor of infancy - lymphadenopathy - fibromatosis coli Midline neck masses: - Thyroglossal duct cyst - Dermoid cyst - Plunging ranula - Teratoma - Thyroid mass - Lymphadenopathy Entire neck: - Hemangioma - Lymphatic malformation ```

Question 105

Cause of thyroglossal duct cysts

Answer 105

Persistent epithelial tract during descent of thyroid from the foramen cecum in the base of the tongue to its final position in the anterior neck. Rarely undergo neoplastic transformation (1%)

Question 106

Evaluation of a child for a suspected thyroglossal duct cyst

Answer 106

Ultrasound: median ectopic thyroid tissue would appear solid on unltrasound Thyroid function tests: Patients with median ectopic thyroid tissue are frequently hypothyroid with elevated TSH and resultant hypertrophy of the ectopic thyroid tissue Thyroid scintiscan: If the above tests indicate presence of median ectopic thyroid this is done to determine where there is function thyroid tissue in the cyst and elsewhere

Question 107

Clinical presentation of a cervical thymic cyst

Answer 107

Most occur in the first decade of life as a lateral neck mass, anterior to SCM, most commonly to the left. 80-90% are asymptomatic. They may enlarge do to hemorrhage or infection and can cause dysphagia, pain, dysphonia and dyspnea. Are known to expand with Valsalva.

Question 108

Possible causes of cervical thymic cysts?

Answer 108

- Incomplete descent of thymus into chest - Sequestration of thymic tissue foci along descent path into chest - Failure of thymophayngeal duct to involute

Question 109

Difference between congenital and acquired thymic cysts

Answer 109

Congenital: Usually unilobular and originate from persistent rudiments of the thymopharyngeal duct. They may have epithelium derived from the thyroid and parathyroid glands because of their close association during development Acquired: Cysts are multilobular and develop from degenerated Hassal corpuscles (degenerated epithelial cells) . Associated with Sjogren syndrome, aplastic anemia, and AIDS

Question 110

What congenital neck mass is a germ cell tumor made up of ectodermal and mesodermal elements but has no endodermal elements

Answer 110

A dermoid cysts - can contain hair follicles, smooth muscle, fibroadipose and sebaceous glands. Presents as firm, lobulated noncompressible mass.

Question 111

Where do dermoid cysts form?

Answer 111

Along lines of embryonic fusion - Most common locations in the head and neck include anterior fontanelle, bregma, upper lateral forehead, upper lateral eyelid, submental region

Question 112

Categorization of head and neck dermoid cysts

Answer 112

Periorbital: most common in head and neck; develop along naso-optic groove between the maxillary and mandibular processes Nasal dorsum: develop during ossification of the frontonasal plate Submentum/floor of mouth: region of fusion of the first and second branchial arches in the midline, most common location in the neck Suprasternal, thyroidal and suboccipital regions

Question 113

How can dermoid cysts be differentiated from thyroglossal duct cysts on exam?

Answer 113

Both commonly present as painless midline neck masses. Dermoid cysts do not move with tongue protrusion or swallowing. Infection of dermoid cysts is also rare because they have no communication with the oropharynx

Question 114

What congenital anomaly arises from embryonic germinal epithelium of all three types: ectoderm, mesoderm, endoderm?

Answer 114

Teratoma

Question 115

What prenatal finding may indicate a cervical teratoma?

Answer 115

Maternal polyhydramnios: often diagnoses during prenatal or early neonatal period

Question 116

Where do teratomas occur within the head and neck?

Answer 116

Neck is most common, nasopharynx, oropharynx, oral cavity

Question 117

EXIT procedure

Answer 117

Ex utero intrapartum treatment procedure - technique used to establish an airway in neonates with airway compression from congenital anomalies diagnosed prenatally. Involves establishing an airway while fetoplacental circulation is preserved.

Question 118

Internal vs external laryngocele

Answer 118

Internal: dilation lies within the limits of the thyroid cartilage and is seen as cystic swelling of the AE fold External: Dilation extends beyond thyroid cartilage in a cephalad direction to protrude through thyrohyoid membrane Combination: can have components of both

Question 119

Pseudotumor of infancy

Answer 119

Benign congenital neck mass that presents as a firm round, nontender mass at the junction of the upper and middle third of the SCM that typically presents 2-3 weeks after birth. Also called SCM tumor of infnacy, fibromatosis coli, congenital muscular torticollis

Question 120

What is the natural history of pseudotumor of infancy?

Answer 120

It is present 2-3 weeks after birth, slowly increases in size for 2-3 months and then slowly regresses for 4-8 months. 80-100% complete resolve by 12 months. Some benefit from PT

Question 121

How do vascular malformations differ clinically from hemangiomas?

Answer 121

Hemangiomas are typically absent at birth, appear during infancy, undergo rapid growth within the first year of life and then undergo a variable period of involution. Most vascular malformations are present at birth, demonstrate growth parallel to the child's development and do not involute over time. Sudden enlargement can be seen with infection, trauma or adolescence.

Question 122

How are vascular malformations classified?

Answer 122

Low flow- capillary malformations, venous malformations, lymphatic malformations and combined type High flow: arterial malformations and arteriovenous malformations

Question 123

Capillary malformation

Answer 123

Located in the cutaneous superficial vascular plexus, made up of capillary and postcapillary venules. Grows with the individual typically becoming darker, nodular and occasionally leading to hypertrophy of the underlying soft and hard tissues. Rarely involute AKA port wine stain commonly associated with Sturge Weber syndrome

Question 124

Sturge Weber Syndrome

Answer 124

Triad of facial dermal capillary malformations, ipsilateral central nervous system vascular malformation (leptomeningeal angiomatosis) and vascular malformation of the choroid in the eye associated with glaucoma - Presents as port wine stain of upper face and eyelid - Requires brain MRI and ophthalmology evaluation - Associated with seizures, developmental delay and focal neurologic deficits

Question 125

Where do venous malformations commonly occur in the head and neck?

Answer 125

Lips and cheek. Intraossous venous malformations ("soap bubble" on radiographs) can occur in the mandible, maxilla, zygoma, calvarium

Question 126

How do lymphatic malformations in the head and neck manifest?

Answer 126

About 90% are diagnosed before age of 2. Often appear as intraoral mass or neck mass that is nontender and may cause functional concerns such as difficult with speech or swallowing or respiratory concnerns. They can enlarge rapidly after infection or trauma due to bleeding or swelling and may be diagnosed in utero with prenatal screening.

Question 127

Classification of lymphatic malformations

Answer 127

Macrocystic: single or multiple cysts at least 2cm large Microcystic: cysts smaller than 2cm Mixed: at least 50% macrocystic component - Infrahyoid vs suprahyoid and unilateral vs bilateral

Question 128

Relationship between type of lymphatic malformation and anatomical location

Answer 128

- Facial lymphatic malformations lateral to the lateral canthal line tend to be macrocystic where as medial midfacial lesions tend to be more mixed - Midface involvement is uncommon and usually is completely microcystic - Neck lymphatic malformations are divided into infrahyoid and suprahyoid - Infrahyoid disease is generally macrocystic and suprahyoid is more likely to be microcystic

Question 129

Presentation of AVM

Answer 129

Usually present at birth and expand with trauma or hormonal changes. Often warm and red or blue with an audible bruit and palpable thrill.

Question 130

Imaging characteristics of AVMs

Answer 130

- MRI: no enhancement on T2 weighted images and flow voids on both T1 and T2 weighted - Angiography: dilation and lengthening of arteries and early shunting of enlarged veins - CT: skeletal involvement

Question 131

Two main types of hemangiomas of infancy

Answer 131

Focal: more common; a tumor like growth pattern Segmental: less common; diffuse, plaque like lesion

Question 132

Phases of hemangiomas of infancy

Answer 132

- Proliferative phase: rapid growth from 2weeks to 1 year. Usually absent at birth but appears during infancy - Involuting: slow regression from 1 - 7 years - Involuted: complete regression by 8 years of age

Question 133

What vascular tumors reach maximal size at birth and do not enter into a rapid postnatal growth phase?

Answer 133

Congenital hemangiomas

Question 134

Two types of congenital hemangiomas

Answer 134

Rapidly involuting congenital hemangioma (RICH) - show accelerated regression typically by 1 year of age Noninvoluting congenital hemangioma (NICH) - do not enter an involuting phase

Question 135

How to differentiate congenital hemangiomas from hemangiomas of infancy

Answer 135

Infantile hemangiomas stain positive for GLUT1 and Lewis Y whereas congenital hemangiomas do not. Placental microvasculature also stains positive for these markers.

Question 136

PHACE/PHACES Syndrome

Answer 136

PHACE describes the association of facial segmental hemangiomas of infancy with one or more of the following anomalies: P - posterior fossa brain malformations H - hemangioma, covering >5cm of the head/neck A - arterial anomalies C - cardiovascular anomalies E - eye anomalies PHACES refers to the presence of ventral developmental defects, specifically sternal defects and or supraumbilical raphe

Question 137

Embryology of EAC and middle ear structures

Answer 137

EAC: first branchial grooze Eustachian tube, middle ear, mastoid air cells: first branchial pouch Malleus head, incus short process and body: first branchial arch Malleus manubrium, incus long process, stapes suprastructure: second branchial artch Stapes footplate: otic capsule

Question 138

What syndromes are most commonly associated with auricular deformities?

Answer 138

- BOR syndrome - Nager syndrome - Treacher Collins - DiGeorge - CHARGE

Question 139

Microtia

Answer 139

- Unilateral:bilateral = 4:1 - right ear: left ear = 3:2 - Male > female - 55-93% associated with EAC atresia or stenosis - 50% associated with congenital syndrome

Question 140

Marx microtia classification system

Answer 140

Grade 1: smaller than normal auricle with mild deformity but all parts of ear can be distinguished Grade 2: Abnormally small auricle with only partial helical structure preserved Grade 3: Severe deformity with mostly skin only lobular remnant Grade IV: anotia

Question 141

Three types of cup ear deformities

Answer 141

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

Question 142

Describe the traditional stages of rib cartilage graft microtia repair?

Answer 142

Separated by 2-3 months, starting around 6 years of age Stage 1: auricular reconstruction (creation of a cartilaginous framework with autogenous rib cartilage) Stage 2: lobule transposition Stage 3: atresia repair Stage 4: construction of tragus Stage 5: auricular elevation

Question 143

Complications associated with microtia repair

Answer 143

- Pulmonary complications from rib harvest (atelectasis, pneumothorax, pneumomediastinum, pneumonia) - Skin necrosis overlying cartilagenous framework - Chondritis - Reabsorption - Malposition of auricular implant - Tissue breakdown of skin graft - Keloiding

Question 144

Common otoplasty techniques

Answer 144

- Mustarde (recreates antihelical fold) or Frunas (decreases conchomastoid angle) are most common

Question 145

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?

Answer 145

Telephone ear deformity Can be prevented by repeatedly checking the tension on all sutures during surgery

Question 146

Weerda classification for EAC malformations

Answer 146

Type A: marked narrowing of the EAC with intact skin layer Type B: partial development of EAC with medial atretic plate Type C: complete bony EAC atresia

Question 147

Minor and major malformations in congenital aural atresia

Answer 147

Minor: normal mastoid pneumatization, normal oval window footplate, favorable facial nerve footplate relationship, normal inner ear Major: poor mastoid pneumatization, abnormality or absence of oval window/footplate, abnormal course of facial nerve, abnormalities of inner ear

Question 148

What is involved in preoperative planning for repair of congenital aural atresia?

Answer 148

Audiometric evidence of cochlear function - ideally ABR done within first few days of life Radiographic evaluation of temporal bone can be deferred until 5-6 years of age

Question 149

How often is congenital cholesteatoma present with congenital atresia

Answer 149

15% of cases

Question 150

Critical elements to review of T bone scan that will predict prognosis in congenital aural atresia repair?

Answer 150

Status of inner ear, extent of temporal bone pneumatization, course of facial nerve, presence of the oval window and stapes footplate

Question 151

Two basic approaches for repair of congenital aural atresia?

Answer 151

Anterior approach: drilling area defined by TMJ anteriorly, middle cranial fossa dura superiorly, and mastoid air cells posteriorly Mastoid approach: sinodural angle first identified followed to the antrum. Facial recess is opened and incudostapedial joint separated. Atretic bone is then removed

Question 152

What congenital syndrome has a wide range of clinical manifestations with the typical presentation involving epibulbar dermoids or lipodermoids, microtia, mandibular hypoplasia, coloboma, hemifacial microsomia and vertebral anomalies?

Answer 152

Goldenhar syndrome (oculoauriculovertebral dysplasia)

Question 153

What external ear anomalies are associated with Goldenhar syndrome?

Answer 153

- Preauricular appendages and fistulae - Anomalies of the auricle - Atresia of the EAC - Microtia or anotia

Question 154

TORCH organisms

Answer 154

``` Toxoplasmosis Other infections: syphilis, coxsakievirus, VZV, HIV, parvovirus, Rubella CMV Herpes ```

Question 155

Hearing loss associated with congenital CMV

Answer 155

Can cause SNHL in as many as 50% of children with symptomatic infections and up to 12% of infants with asymptomatic infections. As many as 50% of SNHL cases due to CMV may have a late onset during preschool or early school years

Question 156

What inner ear structures are affected by CMV?

Answer 156

Cytomegalic inclusion bodies have been seen in superficial cell of the stria vascularis, Reissner membrane, limbus spiralis, saccule, utricle and semicricular canals

Question 157

Symptomatic vs asymptomatic congenital rubella infection

Answer 157

Symptomatic: occurs in first trimester of pregancy producing hearing loss in 50% of patients. Can also cause cardiac malformations, visual loss, osteitis, motor deficits, thrombocytopenic purpura, hepatosplenomegaly, icterus, anemia, low birth weight, cerebral damage Asymptomatic: occurs during 2nd or 3rd trimester of pregnancy and is silent at birth. Associated with hearing loss in 10-20% of patients. Hearing loss commonly seen as cookie bite pattern.

Question 158

Inner ear anomalies commonly seen in congenital rubella infection?

Answer 158

- Cochleosaccular degeneration (Scheibe dysplasia) | - Strial atrophy

Question 159

Early vs late Syphilis infections and effects on hearing

Answer 159

Early: Initial symptoms present from birth to 2 years of age. SNHL is bilateral, flat and usually without vertigo Late: Symptoms can be seen anytime after 2 years of age. SNHL can be sudden, asymmetric, fluctuating, progressive, accompanied by episodic tinnitus and vertigo

Question 160

Major features of congenital syphilis infection

Answer 160

- SNHL - Interstitial keratisis - Hutchinson teeth (notched incisors) - Mulberry molars - Clutton joints (bilateral painless knee effusions) - Nasal septal perforation and saddle nose deformity - Frontal bossing - Osteochondritis and periostitis of long bones leading to saber shin deformity

Question 161

Clinical findings associated with congenital toxoplasmosis infection

Answer 161

90% of infants have no s/sx. Infant may later develop progressive lesions, commonly chorioretinitis. Can develop progressive CNS involvement with decreased intelligence, SNHL commonly associated with calcified scars in stria vascularis and precocious puberty.

Question 162

What congenital anomaly results in complete absence of differentiated inner ear structures and may be associated with stapes aplasia or malformation, anomalous facial nerve course and vestibulocochlear nerve aplasia?

Answer 162

Michel aplasia

Question 163

Pathophysiology of Michel aplasia?

Answer 163

Developmental arrest of otic placode before gestational week 3. Has been associated with thalidomide exposure

Question 164

What congenital ear anomaly results from developmental arrest of cochlear formation at week 7 of gestation, causing failure in cochlear partitioning, an absent interscalar septum, a modiolus that is poorly formed or deficient and a cochlear with only 1-1.5 turns?

Answer 164

Mondini malformation

Question 165

Mondini malformation is commonly seen in what congenital syndrome?

Answer 165

Pendred

Question 166

What additional inner ear anomalies are commonly seen in a child with Mondini malformation?

Answer 166

- Enlarged vestibular aqueduct - Semicircular canal deformities - Communication with subarachnoid space (increased risk for meningitis)

Question 167

Patients with mondini malformation are at increased risk of what during cochlear implantation?

Answer 167

Perilymphatic gusher (increased risk of dead ear or bacterial meningitis)

Question 168

Arrested development of the pars inferior of the otocyst causes dysplasia of the cochlear and saccule, but it does not impact the semicircular canals and utricle which results in what congenital ear dysmorphology?

Answer 168

Scheibe dysplasia (cochleosaccular dysplasia)

Question 169

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?

Answer 169

Alexander aplasia - results in high frequency hearing loss with relatively preserved low frequency hearing

Question 170

Radiographic definition of enlarged vestibular aqueduct

Answer 170

Aqueduct is enlarged when greater than 1.5mm wide at midpoint between common curs and external aperture (roughly the diameter of the posterior SCC)

Question 171

What percentage of congenital SNHL is genetic

Answer 171

50-60% of cases with 30% of these considered syndromic (most commonly Pendred) - Of syndromic cases 75-80% are recessive and 20% are dominant, sex linked about 2-5% and mitochondrial <1%

Question 172

Genetics of nonsyndromic hearing loss

Answer 172

- 80% of cases are autosomal recessive - 20% are autosomal dominant - <2% are due to X linked and mitochondiral mutations

Question 173

What disorder is characterized by hearing loss, vestibular dysfunction, visual loss resulting in retinitis pigmentosa?

Answer 173

Usher syndrome

Question 174

Types of Usher Syndrome

Answer 174

Type I : profound congenital deafness, absent vestibular function, onset of retinitis pigmentosa before puberty (around 10 years of age), autosomal recessive Type 2: Hearing loss moderate to severe at birth. Normal vestibular function. Onset of retinitis pigmentosa is in late teens, autosomal recessive. Most common type. Type 3: Progressive hearing loss. Variable vestibular function. Retinitis pigmentosa variable onset. Progressive hodgkin lymphoma. Autosomal recessive Type 4: Similar to type 2 clinically but X linked recessive inheritance

Question 175

What are pathologic temporal bone findings in patients with Usher syndrome?

Answer 175

Atrophy of organ of Corti at basal turn associated with spiral ganglion degeneration (similar to Scheibe inner ear dysplasia)

Question 176

SNHL which may be profound at birth or progressive, and abnormal iodine metabolism typically resulting in euthyroid goiter are classic manifestations of which congenital disorder?

Answer 176

Pendred syndrome

Question 177

What inner ear abnormalities are found in patients with Pendred syndrome?

Answer 177

- Modiolar deficiency and vestibular enlargement (100%) - Absence of interscalar septum between upper and middle cochlear turns (75%) - Enlargement of vestibular aqueduct (80%)

Question 178

Most likely diagnosis for child with congenital bilateral severe to profound SNHL, prolonged QT and history of syncopal events?

Answer 178

Jervell and Lange Nielson syndrome (autosomal recessive)

Question 179

Pathophysiology of hearing loss in Jervell and Lange Nielson syndrome

Answer 179

KLVQT1 and KCNE1 encode for subunits of potassium channel expressed in heart and inner ear. Hearing loss due to changes in endolymph homeostasis caused by malfunction of this channel

Question 180

Criteria for type I Waardenburg syndrome

Answer 180

Patient must have 2 major or one major and 2 minor Major: - Congenital SNHL - Iris pigmentary abnormality (heterochromia iridis) - Hair hypopigmentation - Distopia canthorum (lateral displacement of inner canthi, decreased visible sclera medially) - First degree relative with Waardenburg Minor: - Congenital leukodermia - Synophrys or medial eyebrow flare - Broad, high nasal root - Hypoplastic alae nasi - Premature graying of hair

Question 181

How are Waardeburg yptes 2,3, and 4 classified

Answer 181

Type 2: type 1 without dystopia canthorum. SNHL is more common than in type I Type 3: Type 1 with hypoplasia or contracture of upper limbs Type 4: autosomal recessive or dominant; type 1 with Hirschsprung disease or other neurologic disorders

Question 182

What gene has been implicated in Waardenburg syndrome?

Answer 182

PAX3

Question 183

Pathophysiology of SNHL in Waardenburg syndrome

Answer 183

Waardenburg syndrome is due to a failure proper melanocyte differentiation. Melanocytes are required in the stria vascularis for normal cochlear function.

Question 184

Temporal bone abnormalities that can occur with Waardenburg syndrome

Answer 184

- T bone abnormalities can occur in 50% ofpatients - Aplasia or hypoplasia of posterior SCC - Vestibular aqueduct enlargement - Widening of upper vestibule - IAC hypoplasia - Decreased modiolus size

Question 185

What causes hearing loss in Stickler syndrome

Answer 185

Mechanism is unknown for SNHL. Conductive loss typically due to craniofacial abnormalities

Question 186

Clinical criteria for BOR syndrome?

Answer 186

Presence of 3 major criteria, two major and one minor or one major and an affected first degree relative Major criteria: - Branchial anomalies - Deafness - Preauricular pits/cysts - Renal anomalies Minor: - External ear anomalies - Middle ear anomalies - Inner ear anomalies - Preauricular tags - Facial asymmetry - Palate abnormalities

Question 187

A child has malar hypoplasoa, cleft zygoma, colobomas, cleft lip, choanal atresia, malocculsion, profound hearing loss what is the most likely diagnosis

Answer 187

Treacher Collins

Question 188

What genetic mutation has been identified in most cases of Treacher Collins syndrome?

Answer 188

TCOF-1, protein: treacle - which is important in the neural crest cells of the branchial arches and may be responsible for the malformation of branchial arch 1 and 2

Question 189

Treacher Collins vs Goldenhar syndrome

Answer 189

Treacher Collins has symmetric facies and bilateral eyelid colobomas (defect in the iris)

Question 190

Mutations in neurofibromatosis type 1 and 2

Answer 190

NF1: 17q11.1, NF1 gene encodes neurofibromin NF2: 22q12.2, NF2 gene encodes merlin

Question 191

What % of patients with NF1 and NF2 have vestibular schwannomas?

Answer 191

NF1: 5%, usually unilateral NF2: 95%, usually bilateral

Question 192

Diagnostic criteria for NF2

Answer 192

Bilateral vestibular schwannomas that usually develop by second decade of life or a family history of NF2 in 1st degree relative plus one of the following: - Unilateral vestibular schwannomas < 30 years of age - Any two of the following: meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacities/jevenile cortical cataract

Question 193

A patient has multiple craniofacial defect, including bicoronal synostosis and maxillary hypoplasia, hypertelorism, protruding eyes, parrot beaked nose, high arched palate, hearing loss from middle ear effusion, low set ears and syndactyly of hands and feet. What is most likely diagnosis?

Answer 193

Apert syndrome

Question 194

What type of hearing loss do people with Apert syndrome develop?

Answer 194

Conductive hearing loss, typically from persistent middle ear effusions

Question 195

Which genetic mutation accounts for most cases of Apert syndrome?

Answer 195

Fibroblast growth factor receptor 2 (FGFR2), autosomal dominant, important int he growth and differentiation of mesenchymal and neuroectodermal cells

Question 196

Characteristic clinical features of Crouzon syndrome

Answer 196

- Craniosynostosis - Hypoplastic midface - Exophthalmos - Hypertelorism - Mandibular prognathism

Question 197

Diagnosis criteria for Alport syndrome?

Answer 197

Patients must have at least three of the following four characteristics: - Positive family history of hematuria with or without chronic renal failure - Progressive high tone SNHL - Typical eye lesion (Anterior lenticonus, macular flecks or both) - Histologic changes of the glomerular basement mebrane in the kidney

Question 198

Mutation of what structure impacts the basement membrane of the eye, kidney and cochlea resulting in Alport syndrome?

Answer 198

Type IV collagen (COL4A3 and COL4A4 genes)

Question 199

Features associated with otopalatodigital syndrome

Answer 199

- Hypertelorism - Frontal bossing - Flat midface - Small nose - Cleft palate - Conductive hearing loss - Abnormalities of fingers and toes

Question 200

Four muscles associated with eustachian tube function

Answer 200

- Tensor veli palatine: opens ET and allows pressure equalization - Levator veli palatine: elevates soft palate - Tensor tympani - Salpingopharyngeus

Question 201

What causes eustachian tube dysfunction in patients with cleft palate?

Answer 201

- 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

Question 202

Most common chronic ear diseases seen in children?

Answer 202

- Chronic otitis media - Chronic suppurative otitis media, with and without cholesteatoma - Chronic mastoiditis - Tympanosclerosis - Cholesterol granuloma

Question 203

Recurrent acute otitis media

Answer 203

- Three or more documented and separate episodes of AOM in previous 6 months or at least 4 documented and separate episodes in previous 12 months with at least one in prior 6 months.

Question 204

Chronic otitis media with effusion?

Answer 204

Middle ear effusion without signs or symptoms of acute ear infection for more than 3 months since date of onset of diagnosis

Question 205

Chronic suppurative otitis media

Answer 205

Chronic inflammation of middle ear and mastoid mucosa in which tympanic membrane is not intact (perforation or tube) and discharge is present

Question 206

Most common pathogens causing acute otitis media?

Answer 206

``` Strep penumoniae (31.7%) Non typable Haemophilus influenzae (28.4%) Moraxella catarrhalis (13.9%) ```

Question 207

For infants with AOM when should antibiotics be initiated?

Answer 207

Immediate oral antibiotic therapy if child is younger than 6 months; if child has severe signs/symptoms (moderate or severe ear pain, ear pain >48hrs, temp > 39) and if child is younger than 24 months and has bilateral AOM Observation or oral antibiotics: if infant is 6-24 months and has nonsevere unilateral or bilateral AOM

Question 208

Antibiotics of choice for AOM

Answer 208

Amoxicillin is first line, Augmentin if pt has received beta lactam antibiotic in previous 30 days or has history of resistance or concominant conjunctivitis. Penicillin allergy - macrolides or clindamycin. Macrolides are not effective against H influenza.

Question 209

When should an audiogram be obtained in children with middle ear disease?

Answer 209

If otitis media with effusion is present for 3 months or longer or before surgery when child meets tympanostomy tube critera

Question 210

When should tympanostomy tubes NOT be recommended in children with middle ear disease?

Answer 210

- Single episode of otitis media with effusion of less than 3 months duration - Recurrent episodes of AOM without middle ear effusion in either ear at the time of evaluation for possible PET placement

Question 211

When are PET indicated for children with middle ear disease ?

Answer 211

- Bilateral tube placement for children with bilateral OME for 3 months or longer and documented hearing difficulties - Bilateral or unilateral PET for children with OME for 3 months or longer and symptoms likely related to OME - Bilateral or unilateral PET for children with recurrent acute OME at evaluation (at least three episodes in 6 months, or at least four episodes in 12 months with at least one episode within the preceding 6 months) - Bilateral or unilateral PET for at risk children with unilateral or bilateral OME that is unlikely to resolve quickly

Question 212

What are the classifications of acquired cholesteatoma?

Answer 212

Primary acquired: occurs without evidence of preexisting perforation or infection and may arise in the pars flaccida Secondary acquired: 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

Question 213

What is a congenital cholesteatoma?

Answer 213

An epidermal inclusion cyst in the middle ear without any history of prior otorrhea, TM perforation, or previous ear surgery. Exam reveals an intact pars tensa and pars flaccida. Mass is most often located in the anterior superior quadrant of the pars tensa.

Question 214

Basilar migraine

Answer 214

Migraine that manifests with aura and consists of two or more of the following symptoms: vertigo, tinnitus, decreased hearing, ataxia, dysarthria, visual symptoms, diplopia, bilateral paresthesias or paresis, decreased level of consciousness following by throbbing headache. Occurs most commonly in female teenagers . Also known as Bickerstaff syndrome

Question 215

Familial ataxia syndrome

Answer 215

Autosomal dominant. Characterized by chronic episodic vertigo and ataxia and may include diplopia, dysarthria, tinnitus and paresthesias. Treated with acetazolamide.

Question 216

How can congential facial paralysis be classified?

Answer 216

- Traumatic vs developmental - Unilateral vs bilateral - Complete vs incomplete

Question 217

Difference between congenital and developmental facial paralysis

Answer 217

Congenital: conditions acquired at or during birth (birth trauma...) Developmental: abnormalities that occur during fetal development either in isolation of as a component of a syndrome

Question 218

Why is it important to differentiate between traumatic congenital and developmental facial palsy?

Answer 218

Most traumatic cases will recover spontaneously whereas developmental causes generally carry poor prognosis.

Question 219

Most common cause of unilateral neonatal facial paralysis?

Answer 219

Birth trauma

Question 220

Risk factors for traumatic facial nerve paralysis

Answer 220

- Forceps assisted delivery - Birth weight > 3500g - Primiparity - Prolonged labor

Question 221

Developmental facial palsy can be due to what 4 categories?

Answer 221

- Aplasia or hypoplasia of cranial nerve nuclei - Nuclear agenesis - Peripheral nerve anomalies (Aplasia, hypoplasia, bifurcation or anomalous course) - Primary myopathy

Question 222

What teratogens are associated with developmental facial palsies?

Answer 222

Ethanol, 13 cisretinoic acid, methotrexate, ionizing radiation, thalidomide

Question 223

Mobius syndrome

Answer 223

Congenital syndrome involving range of abnormalities including bilateral or unilateral facial and or abducens nerve palsies, as well as multiple cranial neuropathies involving the hypoglossal, vagus, and glossopharyngeal nerves. May also be associated with lower extremity abnormalities (club foot), mental retardation, external ear deformities and ophthalmoplegia. Thought to be due to vascular insults in utero

Question 224

Hemifacial microsomia and facial nerve palsies

Answer 224

Defects in first and second branchial arch derivatives. Patient frequently have hearing loss and up to 50% have facial nerve dysfunction. Also known as oculoauriculovertebral dysplasia

Question 225

Albers-Schoenberg disease

Answer 225

Autosomal recessive disorder of bone metabolism that results in osteopetrosis of the IAC and compressive neuropathies of the facial and vestibulocochlear nerves.

Question 226

Congenital lower lip palsy

Answer 226

Developmental facial palsy that results from unilateral abscense or hypoplasia of the depressor anguli oris muscle. Can be associated with cardiovascular congenital anomalies

Question 227

How often is developmental facial palsy a part of the CHARGE syndrome

Answer 227

Around 75% of patients have at least one cranial neuropathy and of these up to 60% have a developmental facial palsy.

Question 228

Syndromes commonly associated with facial clefts.

Answer 228

Apert, ectodermal dysplasia, orofacial digital I/II, stickler, Treacher Collins, Van der Woude, Waardenburg

Question 229

What makes up the primary palate?

Answer 229

Premaxilla, lip, nasal tip, columella

Question 230

What bones form the hard palate?

Answer 230

Palatine process of maxilla and horizontal plate of palatine bone

Question 231

Nasal deformity associated with cleft lip

Answer 231

- Lateral and inferior displacement of alar base and lateral crus, causing dome to be flattened and rotated downward on cleft side - Columella is short causing horizontal orientation to nostril on cleft side - Septum deviates toward cleft side - Widened nasal tip is deflected to the nocleft side

Question 232

Timing for repair of cleft lip and palate

Answer 232

6-12 weeks: repair cleft lip 10-13 months: repair cleft palate, consider PET 2-5 years: manage VPI consider lip/nose revision 6-11 years: orthodontic evaluation and treatment, alveolar bone graft 12-21 years: orthodontics, orthognathic surgery if needed, rhinoplasty

Question 233

What is a lip adhesion procedure?

Answer 233

Converts a complete cleft lip into an incomplete cleft lip at between 2-4 weeks of age, potentially allowing definitive lip repair to be performed with less tension

Question 234

Criteria for performing a lip adhesion

Answer 234

- Wide, unilateral, complete cleft lip and palate - Symmetric, wide bilateral, complete cleft lip with very protruding premaxilla - Introduction of symmetry to an asymmetric bilateral cleft lip

Question 235

Three broad classification of techniques used to repair a unilateral cleft lip

Answer 235

- Straight line repair (Rose-Thompson) - Triangular flap repair (Tennison-Randall repair, Skoog repair) - Rotation/advancement repair (Millard technique, most commonly used; Mohler technique)

Question 236

Millard rotation advancement technique for cleft lip repair

Answer 236

Entails a downward and lateral rotation of the medial segment of the cleft lip combined with medial advancement of lateral cleft segment into the defect, placing the scar in the position of the natural philtral column.

Question 237

Four commonly used techniques for closure of cleft palate?

Answer 237

- Wardill-Kilner technique (V-Y pushback) - von Langenbeck technique (bipedicled mucoperiosteal flaps) - Bardach two flap palatoplasty - Furlow technique (double opposing Z plasty)

Question 238

Most common complication after palatoplasty

Answer 238

VPI

Question 239

Features of a submucous cleft palate?

Answer 239

- Bifid uvula - Zona pellucida (bluish midline region representing the muscle deficiency; abnormal insertion of levator veli palatini) - Notch in the posterior hard palate due to loss of posterior nasal spine

Question 240

Four velopharyngeal closure patterns?

Answer 240

- Coronoal (most common) - Circular - Circular with passavant ridge - Sagittal (least common)

Question 241

Surgical treatment options for VPI

Answer 241

- Nasopharyngeal augmentation - Sphincter pharyngoplasty - Pharyngeal flap - Furlow Palatoplasty

Question 242

Gingival cysts of newborns

Answer 242

AKA dental lamina cysts Originate from remnants of the dental lamina are located on the alveolar ridge of newborns and occasionally become large enough to be clinically noticeable as discrete white swelling on the alveolar ridges. Generally asymptomatic and usually disappear within 2 weeks to 5 months.

Question 243

Epstein pearls vs Bohn nodules

Answer 243

Epstein pearls: cystic, keratin-filled nodules found along midpalatine raphe, likely derived from entrapped epithelial remnants along the line of fusion Bohn nodules: Keratin filled cysts scattered over the palate, most numerous along the junction of the hard and soft palate and apparently derived from palatal salivary gland structure.

Question 244

Diagnosis of recurrent/chronic tonsillitis

Answer 244

- Seven or more episodes of tonsillitis in past 12 months - Five or more episodes in past 2 years - or Three or more episodes in past 3 years

Question 245

Adenoid facies

Answer 245

Associated with chronic mouth breathing. Results in long thin face, high arched palate, malar hypoplasia, open mouth

Question 246

In children with peripheral sleep disordered breathing associated with tonsillar hypertrophy which comorbid conditions might improve after tonsillectomy?

Answer 246

Growth retardation, poor school performance, enuresis, behavioral problems

Question 247

If the tonsillar bed is violated inferiorly during tonsillectomy what nerve is at risk?

Answer 247

Glossopharyngeal nerve runs just lateral to the superior constrictor muscle in the floor of the tonsillar bed. Injury of postop edema may result in altered taste to posterior thrid of the tongue and referred otalgia resulting from irritation of the tympanic nerve (a branch of IX)

Question 248

What perioperative medications are recommended during routine tonsillectomy?

Answer 248

A single dose of intraoperative IV dexamethasone. Surgeons should not give routine perioperative antibiotics.

Question 249

What should you suspect if after adenotonsillectomy for tonsillar hypertrophy and SDB your patient develops acute respiratory compromise?

Answer 249

Pulmonary edema

Question 250

Absolute indications for adenoidecomy

Answer 250

- Hypertrophy resulting in obstructive sleep apnea, obstructive daytime breathing, chronic mouth breathing - Recurrent or persistent acute otitis media in patients > 3-4 years of age - Recurrent and or chronic sinusitis

Question 251

Most common benign pediatric laryngeal neoplasm

Answer 251

Recurrent respiratory papillomatosis (RRP)

Question 252

Two most common age groups affected by RRP

Answer 252

< 5: juvenile onset (JORRP); more aggressive | > 40: adult onset (AORRP)

Question 253

Three most common risk factors for juvenile onset RRP

Answer 253

- Firstborn (longer labor) - Mother is < 20 years of age (more likely lower SES and recent infection) - Vaginal birth in a mother with genital chondylomata

Question 254

What is the strain of HPV most commonly responsible for juvenile RRP and most common anatomical area infected?

Answer 254

HPV 6 or 11, larynx

Question 255

How does the age of juvenile onset RRP relate to disease severity?

Answer 255

Children <3 years of age require more frequent operations (> 4 per year) and have disease involving more anatomical subsites; 19% of children with a more aggressive course will require > 40 surgical procedures in their lifetime

Question 256

Symptoms associated with juvenile onset RRP

Answer 256

Hoarseness, dysphonia, cough, dysphagia, inspiratory stridor, potential respiratory distress

Question 257

Most common antiviral agent used to assist treatment in juvenile onset RRP

Answer 257

``` Cidofovir into the base of the lesion after resection. Inferferon alpha (use has decreased because of side effects), indol-3-carbinol (nutritional supplement found in cruciferous vegetables), HspE7, mumps vaccine, PDT and avastin may also be considered. ```

Question 258

Why is tracheostomy reserved only for severe cases of JORRP with impending airway compromise?

Answer 258

There is a risk of spreading disease to distal tracheobronchial tree

Question 259

What is the risk of malignant transformation in JORRP?

Answer 259

<1% but increased in patients with prolonged, extensive disease and distal spread. HPV 11 is higher risk than HPV 6

Question 260

Gardasil vaccine offers immunity against which serotyupes of HPV?

Answer 260

6, 11, 16, 18

Question 261

What is the most common cause of croup (laryngotracheobronchitis)?

Answer 261

Parainfluenza virus (up to 75%) Predominantly affects and narrows the subglottis Can also be caused by RSV, influenza, measles, adenovirus, varicella and HSV1

Question 262

Most common organism cultured from the trachea during an acute episode of bacterial tracheitis?

Answer 262

S. aureus

Question 263

Diptheria

Answer 263

Results in hoarsenss, cough, odynophagia, general malaise, low grade fever, bilateral lymphadenopathy, coalescing pseudomembranous plaques involving pharynx and larynx. Caused by corynebacterium diphtheriae (gram postive rod). Diagnosed with positive culture and toxin assay Can cause myocarditis, nephritis and CNS complications via systemic absorption of toxin Prevent via vaccination although immune individuals can be asymptomatic carriers. Treat with diphtheria antitoxin, erythromycin or penicillian, serial EKGs and neuro checks

Question 264

What results if during the 10th week of gestation the epithelium that normally temporarily obliterates the laryngeal lumen fails to recanalize?

Answer 264

Congenital laryngeal web. Most commonly noted in the anterior commissure.

Question 265

Most common chromosomal anomaly associated with laryngeal webs?

Answer 265

Chromosome 22q11.2 deletion

Question 266

In a term infant what measurement indicates subglottic stenosis?

Answer 266

Subglottic, or cricoid diameter < 3.5mm

Question 267

Possible causes of congenital subglottic stenosis

Answer 267

- Elliptical cricoid cartilage - Laryngeal cleft - Cricoid flattening (possible from a trapped first tracheal ring) - Large anterior lamella - Generalized mucosal thickening

Question 268

Why is the management of congenital subglottic stenosis different from that of acquired subglottic stenosis?

Answer 268

Most congenital stenoses are cartilaginous and therefore do not respond to dilation or laser ablation of soft tissue

Question 269

In a patient with long segment tracheal stenosis or complete tracheal rings what procedure is often recommended?

Answer 269

Slide tracheoplasty

Question 270

What procedure is recommended for Grade IV subglottic stenosis?

Answer 270

Cricotracheal resection

Question 271

What is the most common benign laryngeal and upper tracheal neoplasm in the newborn or infant?

Answer 271

Hemangioma

Question 272

Most common cause of congenital stridor?

Answer 272

Laryngomalacia (35-75%)

Question 273

Without intervention when would you expect laryngomalacia symptoms to resolve?

Answer 273

18-20 months (at 18 months 75% have no stridor)

Question 274

Why do some recommend that in addition to laryngoscopy a full evaluation of the tracheobronchial tree be performed during the evaluation of laryngomalacia?

Answer 274

Up to 17.5% will have an additional, synchronous lesion

Question 275

What complications are associated with supraglottoplasty?

Answer 275

Transient dysphagia and aspiration (10-15%) Failure or partial improvement (8.8%, more common in children with additional anomalies) Supraglottic stenosis (4%)

Question 276

Normal ratio of cartilage to muscle within the trachea and in a child with tracheomalacia?

Answer 276

Normal: ratio of cartilage to muscle is 4.5:1 Tracheomalacia: the amount of cartilage decreases, thus decreasing the ratio of cartilage to muscle

Question 277

Describe the adult vascular structure that forms from the 6 branchial arches

Answer 277

First arch: internal maxillary artery Second arch: stapedial artery Third arch: carotid system Fourth arch: aortic arch Fifth arch: atretic, never fully develops Sixth arch: pulmonary artery from ventral portion; dorsal portion of right arch disappears while the left dorsal arch becomes the ductus arteriosus Intersegmental arteries: becomes subclavian arteries

Question 278

Complete vs incomplete vascular rings

Answer 278

Complete: aterial derivatives of the branchial arch system that encricle the trachea and esophagus Incomplete: arterial derivatives that encircle the trachea and esophagus with and without ligaments and fibrous bands

Question 279

Common findings on barium esophagram and bronchoscopy with double aortic arch

Answer 279

Barium swallow shows posterior and bilateral compression and bronchoscopy shows anterior and bilateral compression

Question 280

Common findings on barium esophagram and bronchoscopy with right aortic arch anomaly

Answer 280

Barium swallow shows right posterior and lateral compression and bronchoscopy shows right anterior and lateral compression

Question 281

Common findings on barium esophagram and bronchoscopy with anomalous innominate artery

Answer 281

Barium swallow shows no significant finding; bronchoscopy shows anterior compression (left to right from inferior to superior)

Question 282

Common findings on barium esophagram and bronchoscopy with pulmonary artery sling

Answer 282

Barium swallow shows anterior compression; bronchoscopy shows posterior compression

Question 283

Common findings on barium esophagram and bronchoscopy with aberrant right subclavian artery

Answer 283

Barium swallow shows posterior compression; bronchoscopy shows no significant findings

Question 284

Two most common forms of vascular rings

Answer 284

Double aortic arch: ascending aortic arch wraps around the trachea and esophagus, creating a complete ring Persistent right aortic arch with a left ligamentum arteriosum and retroesophageal left subclavian artery (incomplete ring)

Question 285

Pulmonary artery sling

Answer 285

Vascular anomly which produces severe early tracheal compression, has a common site of esophageal and tracheal compression, is thought to arise from the left pulmonary artery originating from the right pulmonary artery, passes between the esophagus and trachea compressing the right mainstem bronchus and distal trachea. Is commonly associated with complete tracheal rings and distal bronchial hypoplasia

Question 286

Anomalous innominate artery

Answer 286

If the innominate arises from the aorta to the left of the trachea can result in symptomatic compression of the trachea that can be seen on bronch as a triangular compression 1-2cm above carina. If compressed with an endoscope will result in dampening of the right radial pulse.

Question 287

What term is used to describe dysphagia caused by extrinsic compression of an anomalous right subclavian artery?

Answer 287

Dysphagia lusoria

Question 288

Cri-du-chat syndrome

Answer 288

5p deletion Presents with metal retardation, hypertelorism, hypotonia, microcephaly, downward slanting palpebral fissures, strabismus, low set ears, beaklike profile, failure to thrive, history of high pitched catlike cry

Question 289

Failed fusion of the posterior cricoid lamina and incomplete development of the tracheoesophageal septum result in what pathologies?

Answer 289

Posterior laryngeal clefts and laryngotracheoesophageal clefts

Question 290

Benjamin-inglis classification of posterior laryngeal and laryngoesophageal clefts

Answer 290

Type 1: limited to supraglottic interarytnoid area Type 2: partial clefting of posterior cricoid cartilage Type 3: cleft of entire cricoid cartilage and cervical portion of tracheoesophageal membrane, stopping above the thoracic inlet Type 4: cleft involves a significant portion of the intrathoracic tracheoesophageal wall and may extend to the carina

Question 291

Meyer-Cotton classification of laryngeal and laryngoesophageal clefts

Answer 291

``` LI: interartynoid cleft LII: partial cricoid cleft LIII: complete cricoid cleft LTEI: into cervical esophagus LTEII: into thoracic esophagus ```

Question 292

Opitz-Frias (G syndrome)

Answer 292

Can present with hypospadias, hypertelorism, dysphagia, a posterior laryngeal cleft, cleft lip/palate, bifid crotum, uvula and tongue

Question 293

Pallister-Hall (congenital hypothalamic hamarbalstomas)

Answer 293

- Mutation in GLI3 Presents with psoterior laryngotracheal cleft, polydactyly, bifid epiglottis, imperforate anus, renal abnormalities, pituitary and hypothalamic abnormalities, hamarblastomas

Question 294

Most common causes of vocal fold paralysis in a newborn

Answer 294

Traumatic birth, neurologic pathology, iatrogenic, idiopathic Should get a brain MRI to evaluate for Arnold Chiari malformation

Question 295

In infants with unilateral vocal fold paralysis what is likelihood of spontaneous recovery after birth trauma or neurologic or idiopathic paralysis?

Answer 295

70%

Question 296

In infants with bilateral vocal fold paralysis what is likelihood of spontaneous recovery after birth trauma or neurologic or idiopathic paralysis?

Answer 296

50%

Question 297

What helpful formula can assit in predicting the correct inner and outer diameter of tracheostomy tube for children

Answer 297

Age - Inner diameter (mm) = age (yrs)/3+3.5 - outer diameter (mm) = age (yrs)/3+5.5 Weight - Inner diameter (mm) = [weight (kg) x 0.08]+3.1 - Outer diameter (mm) =[weight (kg) x 0.1]+ 4.7

Question 298

Describe the embryology of isolated esophageal atresia

Answer 298

Esophageal atresia is defined as an incomplete formation of the esophagus. Isolated esophageal atresia is due to failure of the recanalization of the esophagus during the eighth week of development.

Question 299

What % of patients with congenital anomalies of the aerodigestive tract have isolated esophageal atresia?

Answer 299

About 85% have esophageal atresia with distal tracheoesophageal fistula. 10% with isolated esophageal atresia and 5% with isolated tracheoesophageal fistula.

Question 300

Various types of esophageal atresia with or without tracheoesophageal fistula

Answer 300

1. EA with distal TEF (most common) 2. Isolated EA 3. H type TEF 4. EA with proximal TEF 5. EA with proximal and distal TEF

Question 301

Prenatal signs of esophageal atresia

Answer 301

- Polyhydramnios | - Inability to identify fetal stomach buble on prenatal ultrasound

Question 302

Congenital anomalies commonly associated with esophageal atresia

Answer 302

- Musculoskeletal: hemivertebrae, radoal dysplasia, amelia, polydactyly, syndactyly, rib malformations, scoliosis, lower limb defects - GI: imperforate anus, duodenal atresia, malrotation, intestinal malformations, Meckel diverticulum, annular pancreas - Cardiac: ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, atrial septal defect, single umbilical artery, right sided aortic arch - GU: renal agenesis or dysplasia, horseshoe kidney, polycystic kidney, ureteral and urethral malformations, hypospadias

Question 303

What association is commonly diagnosed with esophageal atresia with or without TEF?

Answer 303

VACTERL (10%)

Question 304

Cochlear anomalies

Answer 304

- Common cavity: arrest at 4th week, severe to profound hearing loss - Cochlear aplasia : arrest in 5th week, no hearing - Cochlear hypoplasia: arrest at 6th week, variable hearing. 15% of cochlear anomalies - Incomplete partition type 2 (mondini malformation): arrests a 7th week, cochlea has 1.5 turns with cyst middle and apical turns. The most common cochlear malformation. Associated with enlarged vestibular aqueduct and Pendred syndrome. May predispose to meningitis. Variable degrees of SNHL -

Question 305

Labyrinthine anomalies

Answer 305

- Cochlear abnormalities are common in patients with semi circular canal (SCC) aplasia - Degree of hearing loss does not correlate with severity of labyrinthine deformity - SCC aplasia found in CHARGE syndrome - SCC dysplasia is 4 times as common as aplasia and associated with conductive hearing loss

Question 306

Two types of OAEs

Answer 306

- Transient evoked: click stimuli, test a small range of frequencies - Distortion product: more frequency specific and can test a wider range - OAEs can be present even with a mild hearing loss (about 30dB)

Question 307

Connexin 26

Answer 307

- Nonfunctional gap junction protein - Mutations in the GJB2 account for 30-50% of recessive deafness - Product of the GJB2 gene - Most common cause of hereditary autosomal recessive nonsyndromic SNHL - Found in 50% of nonsyndromic severe to profound SNHL

Question 308

Syndromes associated with Scheibe malformation

Answer 308

- Usher syndrome - Refsum disease - Down dsyndrome - Waardenburg

Question 309

Pediatric mastoid

Answer 309

- Cortex is very thin predisposing to subperiosteal spread of mastoiditis in children - Mastoid pneumatization continues through early childhood. An infants mastoid bone and marrow can bleed significantly during mastoidectomy - Styloid process is underdeveloped at birth making extratemporal portion of facial nerve at risk from external trauma (such as forceps delivery)

Question 310

Ear structures that are adult size at birth

Answer 310

- Tympanic membrane - Middle ear - Ossicles - Petrous temporal bone

Question 311

Tensor Veli Palatini anchoring points

Answer 311

- Pterygoid hamulus - Ostmann fat pad (plays an important role in close tube to prevent retrograde flow of nasal secretions) - Medial pterygoid muscle - Dilator tubae portion attaches to the cartilaginous tube more perpendicularly - Tendom of the tensor tympani attaches to the medial aspect of the handle of the malleus

Question 312

Cochlear aqueduct

Answer 312

- Usually 3-4mm in diameter and ranges from 1-10mm.

Question 313

Widened IAC

Answer 313

> 10mm. Associated with CSF gusher in CI and stapedectomy

Question 314

Newborn hearing screening

Answer 314

- Recommend universal newborn screening prior to discharge from the hospital - Infants who pass but have a risk factor should have at least one diagnostic audiology assessment by 24-30months of age - Risk factors: prematurity, family hx childhood SNHL, congenital infection, low apgar scores, craniofacial abnormalities, low birth weight, exchange transfusions, loop diuretics, bacterial meningitis, ototoxic antibiotics, hypoxemia, encephalopathy, mechanical ventilation, syndrome associated with hearing loss

Question 315

Screening ABR

Answer 315

- Automated or screening ABRs test for wave V at a soft stimulus (usually click stimulus at 35-40dB) - Sensitivity/specificity of 96-98% - Does not rule out minimal or mild hearing loss

Question 316

Diagnostic ABR

Answer 316

- Used to determine frequency specific thresholds and type of hearing loss. - Child must be completely asleep. Usually requires sedation after 6 months of age

Question 317

OAEs

Answer 317

- Test cochlear outer hair cell function - If present outer hair cell function is considered normal - Transient OAEs only tests a small range of frequencies - Distortion product tests a wider range of frequencies - May pass OAEs with mild hearing loss (about 30 dB)

Question 318

Factors that may adversely affect OAE testing

Answer 318

- Cerumen in the ear - Poor probe fit - Middle ear effusion or any conductive component - Patient compliance (patient must be relatively quiet)

Question 319

What would you expect in audiologic testing in auditory neuropathy

Answer 319

- Present OAEs and abnormal ABR

Question 320

Autosomal dominant syndromes associated with SNHL

Answer 320

- Pierre Robin syndrome - Waardenburg - Apert syndrome - Neurofibromatosis - Treacher Collins - Crouzon - Branchio oto renal - Stickler - Duane syndrome "WANT-CBS"

Question 321

NF type 2

Answer 321

- Autosomal dominant - High penetrance but variable expressivity - Bilateral acoustic neuromas often before age 20, may be unilateral - Cafe au lai spots and cutaneous neurofibromas are fewer than type I - Other cranial, spinal and peripheral nerve schwannomas, intracranial meningiomas, optic gliomas

Question 322

Autosomal recessive syndromes associated with SNHL

Answer 322

- Usher - Pendred syndrome - Jervell Lange Neilsen

Question 323

Pendred syndrome

Answer 323

- Autosomal recessive - Associated with organification defect in the thyroid. Can develop euthyroid goiter and thyroid disfunction. - Most common form of syndromic SNHL - Mutations in the PDS or SLC26A4 gene which encodes pendrin a chloride bicarbonate exchange protein; abnormal ion exchange causes abnormal cochlear potential - Pendrin genetic testing preferred diagnostic tool - Perchlorate discharge test used less frequently due to radioactive exposure -

Question 324

Norrie Syndrome

Answer 324

- X linked recessive - Mutation in norrin protein - Congenital/rapidly progressive blindness because of pseudoglioma development and cataracts - Progressive SNHL with onset in 2nd-3rd decade

Question 325

Oto palato digital syndrome

Answer 325

- X linked recessive - FLNA gene - Hypertelorism, flat midface, small nose, cleft palate, short stature, broad fingers, toes of variable lengths, wide space between 1st and 2nd toe - Conductive hearing loss

Question 326

Wildervanck syndrome

Answer 326

- X linked dominant - Encompases klippel Feil malformation - Bony inner ear malformations - CN 6 paralysis with eye retraction on lateral gaze

Question 327

Complications of PET

Answer 327

- Otorrhea - Granuloma formation - TM perforation - Early extrusion (< 6 months) - Plugged - Cholesteatoma - Tympanosclerosis - Dunked tube

Question 328

Kawasaki disease

Answer 328

- Fever > 5 days - conjunctivitis - oral ulcers and strawberry tongue - erythematous rash - edema, erythema and peeling of hands and feet - nonpurulent cervical lymphadenopathy - Obtain echo - Treat with immunoglobulins and asprin (1% chance of mortality from coronary aneurysm without treatment)

Question 329

What is the most common sarcoma of childhood?

Answer 329

Rhabdomyosarcoma. Up to 35% are found in the head and neck.

Question 330

What cell type gives rise to rhabdomyosarcoma and what major histologic variants are there?

Answer 330

- Primitive skeletal muscle cells (small round blue cell tumor of childhood) - Embryonal, botryoid, alveolar, undifferentiated - Embryonal and alveolar are most common types - Embryonal carries best prognosis - Alveolar carries poorer prognosis (more common type outside the head and neck)

Question 331

Where does pediatric head and neck rhabos most commonly occur?

Answer 331

- 50% parameningeal - paransal sinuses, nasopharynx, nasal cavity, middle ear, mastoid, infratemporal fossa (5 year survival rate) - 25% orbit - 25% non orbit and nonparameningeal: scalp, parotid, oral cavity, pharynx, thyroid, parathyroid, neck

Question 332

TNM staging for rhabdomyosarcoma

Answer 332

T1 - confined to anatomical stie of origin T2 - extension beyond site of origin (a < 5cm in diameter, b > 5cm in diameter) N0 - no clinically involved nodes N1 - clinically involved nodes M0- no mets M1 - mets

Question 333

Describe favorable and unfavorable locations for head and neck rhabdo

Answer 333

Favorable: Orbit and eyelid Unfavorable: parameningeal

Question 334

Most common fibrous tumor of infancy

Answer 334

Infantile myrofibromatosis (solitary or multicentric; well circumscribed, spindle shaped cells, including fibroblasts and smooth muscle cells on histology)

Question 335

Natural history of infantile myofibromatosis

Answer 335

Most will involute by 1-2 years of age. Visceral lesions causing functional impairment may require surgical excision.

Question 336

What is the most common manifestation of head and neck sarcoma

Answer 336

- Painless mass

Question 337

How are sarcomas defined in general terms

Answer 337

- Tissue of origin - Histologic grade - Anatomical subsite of head and neck

Question 338

In kids what % of sarcomas manifest in the head and neck?

Answer 338

Around 35% | - Rate is higher in adults

Question 339

Risk factors for developing sarcoma

Answer 339

- History of radiation - Li Fraumeni syndrome (p53 mutation) - Hereditary retinoblastoma (Rb1 mutation) - NF type I - Gardner syndrome - Nevoid basal cell carcinoma syndrome - Carney triad - Hereditary hemochromatosis - Werner syndrome

Question 340

How might sarcomas differ from SCC at the same anatomical site during exam of the upper aerodigestive tract?

Answer 340

Sarcomas appear as submucosal mass

Question 341

Most likely site of metastasis from head and neck sarcomas?

Answer 341

- Lung | - Imaging of the chest is required (CXR for low grade lesions and CT for high grade lesions)

Question 342

What mesenchymal vascular sarcoma arises from the pericytes of Zimmerman

Answer 342

Hemangiopericytoma

Question 343

Most common subsite of head and neck hemangiopericytoma?

Answer 343

Sinonasal tract

Question 344

Most common initial symptom associated with Ewing sarcoma

Answer 344

Pain and regional swelling

Question 345

What proportion of patients with Ewing sarcoma manifest with metastatic disease?

Answer 345

It's considered metastatic in nearly all patients

Question 346

What hereditary condition is a significant risk factor for development of malignant peripheral nerve sheath tumors?

Answer 346

NF type I | - 40% of tumors develop in a preexisting neurofibroma

Question 347

Two most common locations for osteosarcoma within the head and neck?

Answer 347

Mandible and maxilla

Question 348

Common risk factors for lymphoma

Answer 348

Radiation, EBV, HIV, immunosuppression, organ transplant, organic toxins, autoimmune disorders

Question 349

What cell types give rise to non-Hodgkin lymphoma?

Answer 349

- B cells 85% | - T cells 15%

Question 350

What is the typical age distribution of non Hodgkin lymphoma

Answer 350

Incidence increases with age

Question 351

What are the most common types of non Hodgkin lymphoma of childhood

Answer 351

- Burkitt and Burkitt like - Lymphoblastic - Diffuse large B cell - Other (anaplastic large cell)

Question 352

What are the two symptom classes used for staging lymphoma

Answer 352

Class A: asymptomatic | Class B: fevers, weight loss, night sweats

Question 353

What are the most common subsites of non Hodgkin lymphoma in the head and neck?

Answer 353

Waldeyer ring, salivary glands, larynx, paranasal sinuses, orbit, scalp

Question 354

What chromosomal translocation is commonly noted in Burkitt lymphoma?

Answer 354

t(8;14)(q24;q32)

Question 355

What factors convey a worse prognosis in non Hodgkin lymphoma?

Answer 355

Age: worse if patient is <12 months or > 15 years Site of disease: worse in mediastinum with CNS involvement Tumor burden or LDH levels Unusual chromosomal abnormalities

Question 356

What age groups are most affected by Hodgkin lymphoma

Answer 356

Teenage adolescents and middle age adults

Question 357

Which sex confers a high risk for Hodgkin lymphoma?

Answer 357

Males 2:1

Question 358

What tumors are most commonly associated with EBV?

Answer 358

Burkitt lymphoma (non-Hodgkin) Hodgkin lymphoma Nasopharyngeal carcinoma

Question 359

Pathognomonic histopathology found in Hodgkin lymphoma?

Answer 359

- Reed Sternberg cells (owl eyes - two or more nuclei with two or more large nucleoli) - Eosinophilic inclusions - Large, clonal, multinucleated cells - B cell in origin, derived from germinal centers

Question 360

What prognostic factors are important in Hodgkin lymphoma?

Answer 360

Better: lymphocytic predominance types Worse: the presence of Reed Sternberg cells, higher Ann Arbor stage, presence of B symptoms

Question 361

What % of pediatric thyroid nodules are malignant?

Answer 361

26% | - American thyroid association recommends the same diagnostic and therapeutic approach for children as adults

Question 362

Most common benign thyroid nodules of children

Answer 362

- Multinodular goiter - Hashimoto thyroiditis - Hemorrhagic, colloid and simple cysts - Follicular adenoma - Hurthle cell adenomas

Question 363

Most important environmental risk factor for pediatric thyroid carcinoma?

Answer 363

Radiation exposure

Question 364

Gardner syndrome

Answer 364

Familial adenomatous polyps, PTC - Autosomal dominant - APC gene

Question 365

Carney complex type I

Answer 365

- Primary pigmented nodular adrenocortical disease - Lentigines (liver spots) - Ephelides (freckles) - Blue nevi of skin and mucosa - nonendocrine and endocrine tumors

Question 366

Werner syndrome

Answer 366

- Premature aging - osteosarcoma - soft tissue sarcoma - follicular and papillary thyroid carcinoma

Question 367

PTEN hamartoma syndrome

Answer 367

- Includes Cowden syndrome - macrocephaly - autism or developmental delay - penile freckline - Vascular anomalies - Gi polyps

Question 368

What is the most common pediatric thyroid tumor (malignant or benign)

Answer 368

Follicular adenoma

Question 369

Most common malignant thyroid tumor in children?

Answer 369

- 83% PTC (60% papillary, 23% follicular variant - 10% follicular thyroid carcinoma - 5% medullary thyroid carcinoma

Question 370

Which three syndromes are associated with medullary thyroid carcinoma

Answer 370

- MEN 2A - MEN 2B - Familial medullary thyroid carcinoma

Question 371

When should a CT be considered in the workup of pediatric thyroid cancer?

Answer 371

In cases with extensive disease, extracapsular spread, mediastinal involvement or regional lymphadenopathy.

Question 372

When should you consider elective neck dissection in pediatric patients with well differentiated thyroid carcinoma?

Answer 372

- Lateral neck dissection should be performed only for clinically positive nodal disease - levels IIA, III, IV and VB - If disease in level IIA some recommend IIB too - Central neck dissection should be performed therapeutically for clinically involved central or lateral nodes and electively for patients with primary tumors T3 or T4

Question 373

When should RAI be considered in pediatric thyroid cancer management?

Answer 373

- Known distant mets - Gross extrathyroidal extension - Primary tumor >4cm

Question 374

Potential side effects of RAI ablation in pediatric thyroid cancer?

Answer 374

- Short term: nausea, xerostomia, altered taste, dental carries, cytopenias, menstrual irregularities, decreased sperm counts - Long term: xerostomia, altered taste, cytopenias, nasolacrimal duct obstruction, increased lifetime risk of secondary malignancies

Question 375

Why might you consider a prophylactic thyroidectomy in a pediatric patient?

Answer 375

RET gene mutation positivity - For MEN 2B (high risk) mutations resection may be considered in the first year of life (central neck dissection if > 1 year) - For MEN 2A (lower risk) resection can be delayed until later in childhood

Question 376

Two most common benign salivary gland tumors of childhood?

Answer 376

- Pleomorphic adenoma | - Hemangioma

Question 377

What is the risk of malignancy in pediatric epithelial salivary gland tumors compared to the risk in adults?

Answer 377

Kids 50-60% vs adults 15-25%

Question 378

Most common and second most common pediatric salivary gland malignancy

Answer 378

- Mucoepidermoid carcinoma (#1) | - Acinic cell carcinoma (#2)

Question 379

What two salivary gland malignancies are seen almost exclusively in children?

Answer 379

Sialoblastoma - congenital relatively high risk of local recurrence, risk of metastasis Salivary gland anlage tumor - benign, pedunculated nasopharyngeal tumor, simple surgical excision

Question 380

Where does nasopharyngeal carcinoma most commonly metastasize?

Answer 380

Bone and bone marrow, lung, liver, mediastinum

Question 381

Common manifestations of neuroblastoma in the head and neck

Answer 381

- Horner syndrome - Asymmetric crying faces - Heterochromia irides - Mass effect

Question 382

In addition to imaging what additional tests are important in evaluating a patient with neuroblastoma?

Answer 382

- Histology - Urinary catecholamine metabolites (vanillylmandelic acid, homovanillic acid) - Possibly urinary dopamine - Serum LDH and serum ferritin

Question 383

What is the most significant genetic marker when considering prognosis and risk stratification for neuroblastoma?

Answer 383

MYCN amplification

Question 384

Why might it be reasonable to offer close observation for infants less than 12-18 months of age (excluding neonates <2 months) diagnosed with neuroblastoma?

Answer 384

Most of these tumor undergo spontaneous resolution. - High risk features such as younger than 2 months of age, diploidy, undifferentiated pathology and/or MYCN amplification are contraindication to observation

Question 385

What benign tumor contains Schwann cells, mast cells and fibroblasts?

Answer 385

Neurofibroma

Question 386

What clinical criteria are required to diagnose NF-1

Answer 386

2+ of the following required for diagnosis - 6+ cafe au lait macules >5mm (prepubertal) or >15mm (postpubertal) in diameter - 2+ neurofibromas - Axillary or inguinal freckling - Optic glioma - 2+ Lisch nodules (raised pigmented hamartomas of the iris) - Distinctive bony lesion - A first degree relative with NF-1

Question 387

For a child with a large light brown pigmented macule suggestive of a cafe au lait spot what conditions must be considered?

Answer 387

- NF - McCune Albright syndrome - Fanconi anemia - Tuberous sclerosis

Question 388

What are the 4 possible neurofibroma subtypes?

Answer 388

- Cutaneous - Subcutaneous - Nodular plexiform - Diffuse plexiform (highest risk of malignancy)

Question 389

What is the rate of malignant conversion in NF-1?

Answer 389

10%

Question 390

When should neurofibromas be resected?

Answer 390

When causing compressive or cosmetic symptoms. Diffuse plexiform neurfibromas are often impossible to resect completely

Question 391

What is the most common intracranial tumor associated with NF-1

Answer 391

Optic glioma

Question 392

Most common extracranial tumors associated with NF-1

Answer 392

- Rhabdomyosarcoma - GI stromal tumors - Chronic myeloid leukemia - Pheochromocytoma

Question 393

What is the most important imaging modality when evaluating a midline dermoid cyst?

Answer 393

MRI

Question 394

When should you remove a dermoid cyst?

Answer 394

Surgical resection is recommended for all dermoids to decrease possible associated complications (infection, meningitis, bony erosion)

Question 395

Nevus sebaceous

Answer 395

A well defined tan or yellow orange verrucous/papillomatous hairless plaque usually on the scalp. Present since birth but grows with puberty due to hyperplasia of the sebaceous and apocrine glands within the lesion - There is a low risk of developing BCC. Other benign tumors can also develop from these lesions - Preferred management is observation but can perform surgical excision

Question 396

Spitz nevus

Answer 396

Generally smaller than 1cm in diameter, dome shaped and well circumscribed. Can be purple, red, black or brown. Composed of spindled or larger epithelioid cells. Can be difficult to differentiate from melanoma.

Question 397

What are the 3 types of Spitz nevi

Answer 397

- Conventional - Atypical - Malignant (difficult to differentiate from melanoma)

Question 398

How are spitz tumors managed?

Answer 398

- Conventional: excised with 3-5mm margins - Atypical: excised with 1cm margins and consideration of SLNB and completion lymphadenectomy for positive nodes (up to 50% SLNB will be positive) - Malignant: treat as melanoma

Question 399

What is required to diagnose familial dysplastic nevus syndrome

Answer 399

. 100 melanocytic nevi, at least one clinically dysplastic nevus and at least one nevus > 8mm

Question 400

What is required to diagnose familial atypical mole and malignant melanoma syndrome

Answer 400

> 50 common and or atypical nevi + a history of melanoma in one more more first degree relatives - Autosomal dominant, CDKN2A gene mutations

Question 401

What is the genetic defect associated with nevoid basal cell carcinoma syndrome

Answer 401

- PTCH1 gene, chromosome 9q22.3, tumor suppressor gene

Question 402

What are the clinical criteria to diagnose nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Answer 402

Two major or one major and one minor criteria Major criteria: - 2+ BCC or one BCC in a patient less than 20 - Odontogenic keratocyst of the jaw (histologically proven) - 3+ palmar or plantar pits - Bilamellar calcification of the falx cerebri - Bifid, fused or markedly splayed ribs - 1st degree relative with the disease Minor criteria: - Macrocephaly - Congenital malformations - Skeletal anomalies - Radiographic anomalies - Ovarian fibroma or medulloblastoma

Question 403

Pilomatrixoma

Answer 403

Hard mass found under the skin, can have irregular borders and slow growth, asymptomatic - Arises from outer root sheath of hair follicles - Most are isolated lesions predominantly in the head and neck (lateral cheek, preauricular area, periorbital area) - Surgical excision is recommended management

Question 404

What additional diagnoses should be investigated with multiple pilomatricomas

Answer 404

- Gardner syndrome - Myotonic dystrophy - Tubenstein Taybe - Turner syndrome

Question 405

Side effects of propranolol treatment for hemangiomas

Answer 405

Hypoglycemia, hypotension, bradyarrythmias Can also cause psoriatic rash, GERD, bronchospasm, somnolence - It is a nonselective beta adrenergic antagonist

Question 406

Xeroderma pigmentosum

Answer 406

- Autosomal recessive - Results in extreme sensitivity to light - Potential neurologic sequelae - Elevated incidence of cutaneous malignancies - Associated with defect in DNA repair mechanism (8 genes have been identified)

Question 407

First branchial cleft anomalies

Answer 407

Type I: course medially or laterally to the facial nerve. Located in the peripartoid or preauricular area parallel to the EAC Type 2: may be intermittently involved with the facial nerve. More common than type I.

Question 408

Infantile hemangioma characteristics on MRI

Answer 408

Enhancement and flow voids present on T1 and T2

Question 409

Kasabach Merritt Syndrome

Answer 409

- Platelet trapping coagulopathy resulting in an enlarging hemangioma like tumor - Can result in profound thrombocytopenia - Not associated with infantile hemangioma - Chemotherapy reserved for life threatening coagulopathy

Question 410

Which lymphatic malformations are more amenable to sclerotherapy (doxycycline, alcohol, OK-432)

Answer 410

Macrocystic lesions

Question 411

Atypical mycobacterial infection

Answer 411

- Nontender node enlarging slowly over weeks to months. Classically involves the skin with violaceus hue - Can treat with antimycobacterial drug therapy (macrolide + doxy) - Can offer curettage

Question 412

Ddx of pediatric tongue base mass

Answer 412

- TGDC - Dermoid cyst - Teratoma - Lingual thyroid gland - Vallecular cyst - Neoplasm

Question 413

Most common head and neck malignancies in children under 1 year

Answer 413

- retinoblastoma - Neuroblastoma - Germ cell neoplasms - Rhabdomyosarcoma

Question 414

Most common head and neck malignancies in children between 1 and 5 years

Answer 414

- Retinoblastoma - Rhabdomyosarcoma - Non Hodgkin lymphoma - Hodgkin lymphoma

Question 415

Most common head and neck malignancies in children between 11 and 18 years

Answer 415

- Thyroid cancer - Hodgkin lymphoma - Non hodgkin lymphoma - Melanoma

Question 416

Most common head and neck malignancies in children between 6 and 10 years

Answer 416

- Hodgkin lymphoma - Rhabdomyosarcoma - Non Hodgkin lymphoma - Thyroid cancer

Question 417

Small blue cell malignancies of childhood

Answer 417

- Neuroblastoma - Lymphoma - Rhabdomyosarcoma - Peripheral primitive neuroectodermal tumors

Question 418

What is seen on histology in Burkitt lymphoma

Answer 418

Starry sky pattern of ingested apoptotic cells

Question 419

Congenital laryngeal webs

Answer 419

- Anterior glottis affected 90% of the time, subglottis (7%), supraglottis (2%) - Formed from incomplete recannalization of the primitive larynx during the 10th week of embryogenesis - 1/2 of all children with congenital webs have other abnormalities

Question 420

Ddx for one month old infant with inspiratory stridor since birth, worse with crying and when supine

Answer 420

- laryngomalacia (most likely) - Vocal cold paresis - Congenital subglottic stenosis

Question 421

3 month old infant with worsening biphasic stridor x 2 weeks. What is likely level of obstruction and most likely diagnosis

Answer 421

Glottis or subglottis and most likely a subglottic hemangioma

Question 422

Pediatric airway abnormalities that are worse when supine

Answer 422

- Laryngomalacia - Tongue base lesions or collapse (vallecular cysts, micrognathia, Pierre Robin sequence) - Vascular compression - Mediastinal mass

Question 423

Clinical characteristics of laryngomalacia

Answer 423

Inspiratory stridor - usually noticed shortly after birth, worse with crying, feeding or in supine positions May exhibit GERD with arching of back and frequent spit ups. Most cases improve with time. Severe cases will result in FTT, apneic events and cyantoic episodes and may require surgical intervention

Question 424

Subglottic hemangioma

Answer 424

Twice as common in females than males. Usually presents in first 6 months of life with inspiratory or biphasic stridor or barking cough that responds temporarily to oral steroids. Grows rapidly in 1st 6 months, stabilizes at a year and then slowly involutes. Diagnosis by direct laryngoscopy. Treat with propranolol, laser excision, microdebrider, laryngotracheoplasty, tracheostomy

Question 425

Myer Cotton subglottic stenosis grading

Answer 425

Grade 1: <50% Grade 2: 51-70% Grade 3: 71-99% Grade 4: complete stenosis

Question 426

Surgical treatment of subglottic stenosis

Answer 426

Grade 1-2 lesions - laser - balloon dilation - microdebrider - intralesional steroids Grade 3-4 lesions - tracheostomy - anterior cricoid split: usually used in neonates and infants with good pulmonary function - laryngotracheal reconstruction - anterior/posterior cricoid split (1 or 2 stages) - cricotracheal resection

Question 427

Tracheal causes of stridor

Answer 427

- tracheomalacia - vascular compression from an aberrant great vessel - segmental stenosis - complete tracheal rings - tracheoesophageal fistula - hemangioma - tracheal cyst

Question 428

Clinical presentation of TEF

Answer 428

- respiratory distress - cyanosis during nursing - excessive drooling - inability to pass feeding tube - CXR may show gastric bubble - Contrast radiographic studies may present risk of significant pulmonary aspiration - Diagnose with endoscopy

Question 429

Agents responsible for caustic ingestion and their damage pattern

Answer 429

Acid: ph <7, causes coagulative necrosis and creates a coagulum that prevents deeper tissue injury Base: ph >7, causes liquefactive necrosis, penetration into tissues and deeper injury Bleaches: ph ~7, usually mild irritant and does not cause significant injury

Question 430

Syndromes associated with microtia/aural atresia

Answer 430

- Goldenhar - Treacher Collins - BOR - Crouzon

Question 431

Achondroplasia

Answer 431

- Most common skeletal dysplasia - Autosomal dominant - Associated with narrow foramen magnum and potential for brainstem compression, apnea, otitis and hearing loss - Over 50% have OME and require ear tubes - Disorder of endochondral bone formation: abnormal bones formed from cartilage - Results in shortened limbs, frontal bossing, sunken bridge of the nose, midface hypoplasia, maxillary hypoplasia, nasal bone and septal hypoplasia, class 3 occlusion, cell mediated immune deficiencies - Normal cognition

Question 432

Describe the differences between the 3 FGFR mutation syndromes

Answer 432

Crouzon, Apert and Pfeiffer. All autosomal dominant and present with same clinical findings except Apert has syndactyly and Pfeiffer has broad thumbs and toes

Question 433

Hurler Syndrome

Answer 433

An autosomal recessive mucopolysaccharidosis (deficiency in alpha-L-iduronidase) - Leads to visceromegaly, course facial features, forehead prominence, dwarfism, mixed hearing loss, macroglossia, short neck, mental retardation, skeletal disorders and joint stiffness, sleep apnea, progressive neurological dysfunction

Question 434

Hunter Syndrome

Answer 434

Similar to Hurler but is X linked - multipolysaccharidosis type II - Prominent supraorbital ridges, large flattened nose, low set ears, large jowels, short stature, OSA

Question 435

Beckwith Wiedemann Syndrome

Answer 435

Macroglossia, omphalocele, visceromegaly, cytomegaly of the adrenal cortex.

Question 436

Complications of group A beta hemolytic strep

Answer 436

- Scarlet fever: generalized nonpuritic, erythematous macular skin rash lasting 3-7 days with strawberry tongue, fevers and arthralgias - Rheumatic fever: rare today, bacterial vegetation grows on mitral and tricuspid valves resulting in murmurs, relapsing fevers, valve regurgitation and stenosis - Acute poststreptococcal glomerulonephritis: results in generalized edema, hypertension and hematuria/proteinuria - Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS)

Question 437

PFAPA

Answer 437

Periodic fever, aphthous stomatitis, pharyngitis and adenitis - Constellation of fevers lasting several days and constitutional symptoms - Must exclude HIV - High fevers every 3-8 weeks - Treat with NSAIDs and consider steroids and tonsillectomy - Adenotonsillectomy is highly effective at resolving this

Question 438

Pediatric AHI

Answer 438

Mild: 1-5 Moderate: 5-10 Severe: 10+

Question 439

Criteria to suggest overnight stay after tonsillectomy

Answer 439

- Severe OSA - Under 3 years of age - Under 15 kg - Craniofacial abnormalities and neuromuscular disease - Medical comorbidities

Question 440

Grisel syndrome

Answer 440

Nontraumatic atalntoaxial subluxation. Results from C1-C2 subluxation with prevertebral inflammation. Can occur after adenotonsillectomy related to electrocautery. Prolonged neck pain and stiffness for 2 weeks or more. Head rotated away from side where atlas has shifted. Diagnosis confirmed with CT scan. Treat with antiinflammatory meds, soft diet and may need C collar.

Question 441

Deformational plagiocephaly

Answer 441

A non surgical condition where baby develops a flat spot on their head. Can be treated with repositioning or helmet therapy

Question 442

Unilateral coronal craniosynostosis and classic features

Answer 442

Second most common form of craniosynostosis. Results in elevation of supraorbital ridge on affected side (Harlequin eye). Nose and midface twisted toward affected side. Compensatory frontal bossing of unaffected side.

Question 443

Sagittal synostosis

Answer 443

Most common form of craniosynostosis. Will result in head growing long and narrow.