1 Peds ENT Flashcards

Question

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

Answer 1

60%. 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 or 3 years) rather than growth of the facial skeleton.

Answer 2

* C Coloboma * H Heart defect * A Atresia, choanal * R **Retarded** growth and development * G Genital hypoplasia * E Ear anomalies/hearing loss

Answer 3

Midline malformations, esophageal atresia, and bilateral choanal atresia

Answer 4

Choanal atresia, ear abnormalities and hearing loss, facial nerve palsy, pharyngoesophageal dysmotility, laryngomala cia, vocal-cord paralysis or paresis, obstructive sleep apnea, tracheoesophageal fistula, and gastroesophageal reflux. Temporal bone abnormalities, such as hypoplasia of the semicircular canals and Mondini malformation can also occur.

Answer 5

CHD7 gene (member of the chromodomain helicase DNA protein family), chromosome 8q12 in 75% of patients with CHARGE association

Answer 6

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

Answer 7

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

Answer 8

Clefting of the secondary palate, hypernasal speech, pha ryngeal hypotonia, structural heart anomalies, dysmorphic facial appearance, slender hands and fingers, and learning disabilities

Answer 9

About 80 to 100% have a hemizygous deletion of chromosome 22q11.

Answer 10

Cleft palate (occult submucous cleft, overt submucous cleft or soft palate cleft), hypotonia of the pharyngeal muscles, platybasia (an obtuse angulation of the cranial base), and a small adenoid pad

Answer 11

Abnormal craniofacial anatomy, cleft palate, and associated eustachian tube dysfunction

Answer 12

Nasopharyngoscopy (look for pulsations in the posterior or lateral pharyngeal walls), computed tomography angiog raphy (CTA), or magnetic resonance angiography (MRA); 25 to 30% have medial displacement of their internal carotid arteries.

Answer 13

Van der Woude syndrome

Answer 14

Usually bilateral paramedian sinuses in the lower lips placed symmetrically on either side of midline. They can also be median, paramedian, or unilateral (usually left). A single median or paramedian lower lip pit is considered an incomplete expression of the trait.

Answer 15

The lower lip of a 32-day embryo consists of four growth centers divided by one median and two lateral grooves. In the 38-day embryo, the lateral grooves disappear unless there is impeded mandibular growth, which results in the formation of a lower lip pit.

Answer 16

* Hearing loss * Typical facial characteristics (micrognathia leading to Pierre Robin sequence) * Hypermobility * Enlargement of joints associated with the onset of arthritis in early adulthood * Myopia, retinal detachment, cataracts

Answer 17

Mutations in the COL2A1, COL9A1, COL11A1, and COL11A2 genes cause Stickler syndrome. These genes are involved in the production of type II, type IX, and type XI collagen, which are components of vitreous, cartilage, and other connective tissues.

Answer 18

● Type 1 (autosomal dominant) are mutations in the COL2A1 gene and are the most common. ● Type 2 (autosomal dominant) are mutations in the COL11A1 gene. ● Type 3 (autosomal dominant) are mutations in the COL11A2 gene. No ocular abnormalities because COL11A2 is not present in the vitreous. ● Type 4 (autosomal recessive) are mutations in COL9A1.

Answer 19

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

Answer 20

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

Answer 21

● Treacher Collins syndrome ● Velocardiofacial syndrome ● Fetal alcohol syndrome ● Möbius syndrome ● Nager syndrome ● Beckwith-Wiedemann syndrome

Answer 22

80% (20% isolated)

Answer 23

● 70%: Positioning alone (i.e., prone positioning) ● 20%: Nasopharyngeal airway, mandibular distraction osteogenesis (gaining popularity), tongue-lip adhesion (being performed less commonly) ● 10%: Tracheostomy

Answer 24

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

Answer 25

Hydration and antimicrobial therapy should lead to a response within 48 to 72 hours. Gland manipulation should be avoided in a preterm child to reduce the risk of systemic septicemia. If no satisfactory improvement is seen, incision and drainage are recommended.

Answer 26

Epstein-Barr virus, parainfluenza viruses, adenovirus, human herpes virus–6, human immunodeficiency virus (HIV), Coxsackievirus, mumps virus, and influenza virus

Answer 27

Parotid and submandibular glands (diffuse tender enlarge ment), gonads, pancreas, and meninges

Answer 28

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

Answer 29

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

Answer 30

Actinomycosis, tuberculosis, atypical mycobacterial infec tions, and sarcoidosis

Answer 31

Mycobacterium avium-intracellulare (70 to 90% of cases), M. bovis, M. kansasii, and M. scrofulaceum

Answer 32

Heerfordt syndrome (or uveoparotid fever). Its symptoms include fever, malaise, weakness, nausea, and night sweats. Evaluation includes chest radiography looking for hilar adenopathy and an acetylcholinesterase level. A biopsy from the lip or tail of the parotid may confirm the diagnosis.

Answer 33

Juvenile recurrent parotitis (JRP). The peak incidence is between the ages of 3 and 6 years, with predominance in boys. Diagnosis is made on a clinical basis and is confirmed by ultrasonography or sialography, which shows patho gnomonic sialectasias (intraductal cystlike dilations).

Answer 34

● Oral motor training: Exercises are done to encourage swallowing, improve muscle tone and oral sensation, stabilize body and head position, promote jaw stability and lip closure, and decrease tongue thrust. ● Behavioral therapy: Verbal and auditory cues can increase the frequency and efficiency of swallowing. ● Anticholinergic pharmacotherapy, oral glycopyrrolate, botulinum toxin injections into major salivary glands may decrease the volume of saliva.

Answer 35

* **Submandibular gland excision\*** * **Submandibular duct rerouting \*** * **Parotid duct rerouting\*** * Sublingual gland excision * Ligation of parotid ducts * Transtympanic bilateral _tympanic plexus neurectomy_ and bilateral _chorda tympani nerve_ section * Any combination of these procedures \*Highest rates of success

Answer 36

Parotid gland hemangiomas constitute 50% of pediatric parotid gland tumors.

Answer 37

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

Answer 38

Oral propranolol therapy

Answer 39

Nasal bone and mandibular fractures

Answer 40

Saddle nose deformity, deformed columella or nasal base

Answer 41

Ongoing facial growth

Answer 42

They are obligate nasal breathers.

Answer 43

Reduction should be done either within 3 to 6 hours of injury, before the onset of swelling, or 3 to 10 days after the injury. If immediate reduction cannot be performed, the fractures should be evaluated 3 to 7 days after the injury, when edema has subsided.

Answer 44

● Dermoid (most common) ● Glioma ● Encephalocele ● Epidermoid cysts ● Hemangiomas ● Teratomas ● Neurofibromas ● Lipomas ● Lymphangiomas

Answer 45

Nasal dermoid forms and contains keratin debris, hair follicles, sebaceous glands, and sweat glands.

Answer 46

* M\>F * Noncompressible mass; firm, nontender * Furstenberg sign negative (no enlargement with compression of the jugular veins) * Located in the midline, most commonly along the dorsum, resulting in a widened dorsum. * Intranasal, extranasal, or intracranial * It may have a sinus opening with intermittent discharge of sebaceous material * Hair protrudes through a punctum, is pathognomonic, but not commonly seen.

Answer 47

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

Answer 48

● Bifid crista galli ● Enlarged foramen cecum

Answer 49

● Treatment involves complete surgical excision. Ap proaches vary depending on presence of intracranial extension, and recurrence is common. ● Extracranial approach: Vertical midline incision, trans verse incision, lateral rhinotomy, external rhinoplasty, inverted-U incision, and degloving procedures ● Combined approach: Extracranial approach combined with a frontal craniotomy

Answer 50

Nasal gliomas

Answer 51

● Abnormal closure of fronticulus frontalis, isolating the brain tissue from the intracranial cavity ● Nidus of ectopic neuroepithelia ● An outgrowth of olfactory tissue through the cribriform plate

Answer 52

* Extranasal gliomas (60%) are smooth, firm, noncompressible masses that occur most commonly at the glabella, although they may arise along the side of the nose or the nasomaxillary suture line. * Intranasal gliomas (30%) are 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%)

Answer 53

Encephalocele, meningocele, and meningoencephalocele, respectively

Answer 54

● Sincipital (60%): Arise between the frontal and ethmoid bones at the foramen cecum, immediately anterior to the cribriform plate. ● Basal (40%): Arise between the cribriform plate and the superior orbital fissure or posterior clinoid fissure. Note: The most common congenital encephaloceles are occipital (75%).

Answer 55

● Nasofrontal: Defect is located at the glabella between the nasal and frontal bones. ● Nasoethmoidal: Sac exits through the foramen cecum, passing under the nasal bones and above the upper lateral cartilages, creating a lateral nasal mass. ● Nasoorbital: Sac transverses the foramen cecum before extending into the orbit via a defect in its medial wall.

Answer 56

1. **Transethmoidal:** Sac extends medial to the superior turbinate via a cribriform plate defect. 2. **Sphenoethmoidal:** Sac protrudes into the nasopharynx via a defect between the posterior ethmoid and the anterior sphenoid wall. 3. **Transsphenoidal:** Sac also is seen in the nasopharynx, exiting intracranially through an open craniopharyngeal canal. 4. **Sphenoorbital:** It protrudes through the superior orbital fissure and out the inferior orbital fissure into the sphenopalatine fossa.

Answer 57

● Bluish/red mass that is soft, compressible ● (Positive) Furstenburg test (expands with compression of internal jugular vein) ● Pulsatile ● Does transilluminate

Answer 58

CT and MRI

Answer 59

To prevent CSF leak, meningitis, and brain herniation

Answer 60

● Buccopharyngeal membrane persistence ● Abnormal neural crest cell migration ● Bucconasal membrane persistence ● Adhesion formation in the nasochoanal region as a result of abnormal mesoderm

Answer 61

* 1:5,000 to 8,000 live births * 75% unilateral, R\>L * Female-to-male ratio: 2:1 * 50% unilat and 75% bilat have other assoc congenital anomalies. * Bony 30%, membranous 70%

Answer 62

● A narrow nasal cavity ● Lateral bony obstruction by the pterygoid plates ● Medial obstruction caused by thickening of the vomer ● Membranous or bony obstruction

Answer 63

● CHARGE association ● FGFR-related craniosynostosis syndromes (e.g., Crouzon syndrome, Pfeiffer syndrome, Apert syndrome, Jackson-Weiss syndrome, Muenke syndrome, Antley-Bixler syndrome) ● Down syndrome ● Treacher-Collins syndrome ● Solitary medianmaxillary central incisor syndrome

Answer 64

6 to 9 months

Answer 65

Bilateral choanal atresia

Answer 66

Typically it is not seen until the patient is aged 5 to 24 months or a young adult as a result of unilateral nasal obstruction or rhinorrhea.

Answer 67

One can attempt to pass a nasogastric tube or small catheter (\< 8 French, generally a 5/6 French is used) through the nose. If it does not pass, the presence of choanal atresia is suspected and further workup is required.

Answer 68

● Transpalatal ● Transnasal: puncture (Fearon) ● Endoscopic endonasal (transnasal, transoral, combined); puncture, drill, dilation

Answer 69

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

Answer 70

**Congenital nasal pyriform aperture stenosis** occurs secondary to bony **overgrowth of the medial nasal process of the maxilla** into the nasal aperture resulting in a pyriform aperture **smaller than 11 mm**.

Answer 71

● Holoprosencephaly (HPE): Clinical features include facial dysmorphisms such as ocular hypotelorism, midline cleft lip and/or flat nose, cerebral malformations, learning disabilities, arrhinencephaly, agenesis of the corpus callosum, hypopituitarism, single maxillary central incisor. ● Solitary median maxillary central incisor syndrome (SMMCI): Clinical features include severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hy potelorism, convergent strabismus, esophageal and duodenal atresia, cervical hemivertebrae, cervical der moid, hypothyroidism, scoliosis, absent kidney, micro penis, and ambiguous genitalia.

Answer 72

● Nonoperative management: Nasal trumpets, topical steroids, and vasoconstrictive drops may be attempted until growth results in increased nasal airway size. ● Operative management: A sublabial approach is done to expose the inferior and lateral pyriform aperture. A small diamond burr is then used to widen the bony lateral and inferior margins.

Answer 73

● Absence of the external nose, nasal airways, and olfactory apparatus ● Hypoplasia of the maxilla ● A small high-arched palate ● Hypertelorism

Answer 74

● Most commonly autosomal dominant ● Defective transportation of odorants to the olfactory neuroepithelium as a result of congenital malformations in the nasal cavity ● Disrupted signal transduction or signal propagation ● Malformation of regions in the brain essential for olfaction

Answer 75

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

Answer 76

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

Answer 77

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

Answer 78

Bluish swelling of the skin overlying the nasolacrimal duct, cyst in the inferior meatus, superior displacement of the medial canthal tendon, and epiphora

Answer 79

Infant with significant symptoms (i.e., feeding difficulty, infection, or respiratory difficulty)

Answer 80

Endoscopic marsupialization (opening the cyst into the inferior meatus). Ophthalmologist may need to probe duct and possibly place stents to ensure patency.

Answer 81

Rathke cleft/pouch cyst

Answer 82

Non-neoplastic, sellar/suprasellar epithelial lined cyst (sella turcica). Most often they are small and asymptomatic.

Answer 83

During the fifth to sixth decade of life, female predom inance. They are usually asymptomatic, but large lesions may cause visual disturbance, pituitary dysfunction, and/or headaches. They can be seen on MRI.

Answer 84

Craniopharyngioma

Answer 85

Thornwaldt cyst

Answer 86

None. Occasionally patients complain of postnasal drip with intermittent drainage of the cyst or halitosis. If the cyst enlarges or becomes infected, nasal obstruction or eusta chian ET dysfunction can result.

Answer 87

If the diagnosis is clear, observation and reassurance are recommended. If cysts are dark-colored from hemorrhage or hemosiderin, consider biopsy after obtaining an MRI to rule out intracranial communication. If symptomatic, they can be surgically removed, taking care to remove the entire cysts, which can extend to the prevertebral fascia.

Answer 88

Intra-adenoidal cyst

Answer 89

● Immature immune system ● Small developing sinuses ● Viral upper respiratory infections ● Allergy/allergic rhinitis ● Immunodeficiency ● Gastroesophageal reflux disease ● Cystic fibrosis

Answer 90

Clinical diagnosis can be made when a child has an acute upper respiratory infection (URI) and the following (Amer ican Academy of Pediatrics [AAP] clinical guidelines, 2013) symptoms: ● Persistent illness (i.e., nasal discharge of any quality or daytime cough or both lasting more than 10 days without improvement) or ● Worsening course (i.e. new onset of nasal discharge, daytime cough, or fever after initial improvement) or ● Severe onset (i.e., concurrent fever with temperature ≥ 39°C or 102.2°F) and purulent nasal discharge for at least 3 consecutive days (Evidence Quality: B, Recommendation)

Answer 91

Streptococcus pneumoniae (25 to 30%) Haemophilus influenzae (15 to 20%) Moraxella catarrhalis (15 to 20%)

Answer 92

Only if there is concern for orbital or intracranial involvement

Answer 93

AAP clinical practice guidelines, 2013: ● Severe onset and worsening course (signs, symptoms, or both) (Quality of Evidence B, Strong Recommendation) or ● No improvement after a 3-day course of observation with persistent illness (nasal discharge of any quality or ● Cough or both for at least 10 days without improvement) (Quality of Evidence: B, Recommendation)

Answer 94

AAP clinical practice guidelines, 2013 ● Day care or child care attendance ● Antibiotic treatment within the previous 30 days ● Age \< 2 years

Answer 95

● Amoxicillin ± clavulanate. Duration varies: continue 7 days after resolution of symptoms. ● Standard-dose amoxicillin (45 mg/kg daiy divided into two doses): Mild to moderate severity illness in a child who does not attend day care, has not been treated with antibiotics in the previous 30 days, and whose age is \> 2 years. ● High-dose amoxicillin (80 to 90 mg/kg daily divided in two doses, maximum 2 g/day): In communities with a \> 10% incidence of S. pneumoniae resistance ● Amoxicillin-clavulanate (amoxicillin 80 to 90 mg/kg daily divided into two doses, maximum 2 g/day): Moderate to severe illness or who attend day care, have received antibiotics within 30 days, or are \< 2 years of age. ● Ceftriaxone (50 mg/kg dose given intramuscularly (IM) or IV) if unable to tolerate oral administration, followed by an oral antibiotic to complete therapy if improvement is noted within 24 hours. ● Clindamycin = cefexime or linezolid and cefexamine or levofloxacin: If the child’s condition worsens after 72 hours on high-dose augmentin ● Options to consider if the child is allergic to penicillin: cefdinir, cefuroxime, cefpodoxime, clindamycin and ce fexime, linezolid, or a flouroquinolone. ● Inpatient IV antibiotics should be considered in pediatric patients with complicated bacterial sinusitis (AAP, 2013).

Answer 96

● Orbital/periorbital inflammation from ethmoid sinuses: Preseptal cellulitis, orbital cellulitis, subperiosteal abscess, and orbital abscess ● Intracranial spread from the frontal and sphenoid sinuses: Meningitis, epidural abscess, subdural empyema, intra cerebral abscess, and cavernous or sagittal sinus thrombosis

Answer 97

The Chandler Classification ● Group 1: Inflammatory (preseptal) edema of eyelids without tenderness; obstruction of venous drainage; no associated visual loss or limitation of ocular movements ● Group 2: Orbital cellulitis with diffuse edema of the adipose tissue in the orbital contents secondary to inflammation and bacterial infections; no abscess formation ● Group 3: Subperiosteal abscess, abscess formation between the orbital periosteum and the bony orbital wall. The mass displaces the globe in the opposite direction (usually down and lateral); the proptosis may be severe with decreased ocular mobility and visual acuity. The abscess may rupture into the orbit through the orbital septum. ● Group 4: Orbital abscess, a discrete abscess within the orbit. Proptosis is usually severe but is symmetrical and not displaced as in the subperiosteal abscess. Complete ophthalmoplegia results, and visual loss occurs in 13%. ● Group 5: Cavernous sinus thrombosis; progression of the phlebitis into the cavernous sinus and to the opposite side, resulting in bilateral symptoms

Answer 98

American Academy of Otolaryngology (2013) ● One or more symptoms of sinusitis \> 12 weeks ● Six or more episodes of acute sinusitis/year ● Acute exacerbations without complete resolution between episodes

Answer 99

IVIG may have a role in the treatment of chronic or recurrent acute sinusitis in a select group of patients whose disease is recalcitrant despite maximizing conventional medical therapy. Many believe that IVIG may not be acting as replacement therapy for a humoral immune deficiency but more so as an anti-inflammatory or immune-modulat ing agent that interrupts the chronic inflammatory process in patients with chronic sinusitis.

Answer 100

Nasal irrigation, intranasal corticosteroids, topical/oral decongestants, mucolytics, and/or topical/oral antihis tamines. Patients should also undergo a workup for allergies, reactive airway disease, headache, immuno deficiency, and cystic fibrosis as indicated.

Answer 101

● Adenoidectomy ● Maxillary antral lavage ● Functional endoscopic sinus surgery: middle meatal antrostomy, anterior or total ethmoidectomy

Answer 102

Absolute indications: ● Complete nasal obstruction in cystic fibrosis attributable to massive polyposis or closure of the nose by medial ization of the lateral nasal wall ● Antrochoanal polyp ● Intracranial complications ● Mucoceles and mucopyoceles ● Orbital abscess ● Traumatic injury in the optic canal (decompression) ● Dacryocystorhinitis resulting from sinusitis and resistant to appropriate medical treatment ● Fungal sinusitis ● Some meningoencephaloceles ● Some neoplasms Relative indications: ● Chronic rhinosinusitis that persists despite optimal medical management and after exclusion of any systemic disease ● Optimal medical management includes 2 to 6 weeks of adequate antibiotics (IV or oral) and treatment of concomitant diseases.

Answer 103

● Common variable immunodeficiency ● Immunoglobulin (Ig)A deficiency ● IgG subclass deficiencies, most commonly IgG3 defi ciency (important for defense against Moraxella catarrhalis and Streptococcus pyogenes)

Answer 104

The chronic inflammatory disease and decreased ventilation of the sinuses prevent pneumatization, resulting in dimin ished postnatal growth of the sinus systems already present at birth, the maxillary and ethmoid sinuses. In addition, there is a lack of development, or hypoplasia, of the frontal and sphenoid sinuses. Incidence of nasal polyposis in cystic fibrosis varies from 6 to 48% and does not usually occur before 5 years of age or after age 20.

Answer 105

Lateral neck masses: ● Branchial anomaly ● Laryngocele ● Thymic cyst ● Pseudotumor of infancy Midline neck masses: ● Thyroglossal duct cyst (most common midline) ● Dermoid cyst ● Plunging ranula ● Teratoma Entire neck: ● Hemangioma ● Lymphatic malformation

Answer 106

Thyroglossal duct cyst

Answer 107

About 60% are located adjacent to the hyoid bone, 24% are between the hyoid bone and base of the tongue, 13% are between the hyoid and pyramidal lobe of the thyroid gland, and the remaining 3% are intralingual. Up to 20% of cysts are slightly off the midline, with a predilection for the left.

Answer 108

Thyroglossal duct cysts form as a persistent epithelial tract during the descent of the thyroid from the foramen cecum in the base of the tongue to its final position in the anterior neck. They rarely undergo neoplastic transformation (1%).

Answer 109

Evaluate for the presence of thyroid tissue in the cyst (45%) and whether there is functional tissue elsewhere: ● Ultrasound: Median ectopic thyroid tissue would appear solid on ultrasound. ● Thyroid function tests: Patients with median ectopic thyroid tissue are frequently hypothyroid, with elevated thyroid-stimulating hormone (TSH) levels and resultant hypertrophy of the ectopic thyroid tissue. ● Thyroid scintiscan: This test is performed if the preceding tests indicate the presence of a median ectopic thyroid to determine whether there is functional thyroid tissue in the cyst and elsewhere.

Answer 110

Sistrunk procedure: Stresses removal of the central portion of the hyoid bone associated with the thyroglossal duct tract to decrease the risk of recurrence and removal of the tract to the level of the base of tongue.

Answer 111

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

Answer 112

● Incomplete descent of the thymus into the chest ● Sequestration of thymic tissue foci along the descent path into the chest ● Failure of the thymopharyngeal duct to involute

Answer 113

● Congenital: These cysts are usually unilobular and originate from persistent rudiments of the thymopha ryngeal 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 Hassall corpuscles (degenerated epithelial cells); they are associated with Sjogren syndrome, apalastic anemia, and acquired immunodeficiency syndrome (AIDS).

Answer 114

A dermoid cyst, which can contain hair follicles, smooth muscle, fibroadipose tissue, and sebaceous glands

Answer 115

Along the lines of embryonic fusion

Answer 116

They are categorized by location: ● Periorbital region: Most common in the head and neck; develop along the naso-optic groove between the maxillary and mandibular processes ● Nasal dorsum: Develop during ossification of the fronto nasal 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

Answer 117

Both most commonly present as painless midline neck masses. Because of their superficial location and lack of mesodermal attachments, 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.

Answer 118

Surgical excision. If cervical and cannot exclude the presence of a thyroglossal duct cyst, consider a Sistrunk procedure.

Answer 119

Maternal polyhydramnios: Often diagnosed during the prenatal or early neonatal period

Answer 120

Neck (most common), nasopharynx, oropharynx, and oral cavity

Answer 121

The ex utero intrapartum treatment (EXIT) procedure is a technique used to establish an airway in neonates with airway compression from congenital anomalies diagnosed prenatally. It involves establishing an airway while the fetoplacental circulation is preserved. The fetus is partially delivered via a cesarean section, and the airway is then secured while the fetus remains attached by its umbilical cord to the placenta.

Answer 122

Laryngocele, laryngomucocele, laryngopyocele, respectively

Answer 123

● Internal: Dilation lies within the limits of the thyroid cartilage and is seen as cystic swelling of the aryepiglottic fold. ● External: Dilation extends beyond the thyroid cartilage in a cephalad direction to protrude through the thyrohyoid membrane. ● Combination: These can have internal and external components.

Answer 124

Pseudotumor of infancy. Also called sternocleidomastoid tumor of infancy, fibromatosis coli, or congenital muscular torticollis.

Answer 125

It is present 2 to 3 weeks after birth, slowly increases in size for 2 to 3 months, and then slowly regresses for 4–8 months; 80 to 100% completely resolve by 12 months. Some benefit is derived from physical therapy.

Answer 126

Sublingual gland

Answer 127

Intraoral component appears as a blue dome-shaped lesion in the floor of mouth, usually on either side of the midline. The extraoral portion is seen as a submental mass extending along the inferior border of one side of the mandible. It is not a true cyst.

Answer 128

● Intraoral incision and marsupialization of cyst ● Intraoral excision with removal of sublingual gland (preferred) ● External cervical approach to identify the cyst, with dissection through the mylohyoid muscle. In combina tion, excision of the sublingual gland can be performed via an intraoral approach. ● OK-432 intralesional sclerotherapy

Answer 129

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.

Answer 130

Based on the rate of blood flow: ● Low-flow lesions: Capillary malformations, venous mal formations, lymphatic malformations, and a combined type that has a mixture of either two or three of the low flow lesions ● High-flow lesions: Arterial malformations and arterio venous malformations

Answer 131

Capillary malformation (vascular malformation). Also known as a port-wine stain, it is commonly associated with Sturge-Weber syndrome.

Answer 132

Sturge-Weber syndrome

Answer 133

The superficial component can be treated with laser photocoagulation with the pulsed-dye laser (585-nm wavelength). Surgery ranging from simple excision of bleeding nodules to wide resection of hypertrophic tissues with soft tissue reconstruction may be used to treat long standing capillary malformations.

Answer 134

Also termed port-wine stain, they are the most common vascular malformation, are present at birth, and grow in proportion to body development. They initially appear red and flat and over time may become more purple. They rarely involute.

Answer 135

Venous malformation

Answer 136

Lips and cheeks. Intraosseous venous malformations (“soap bubble” on radiographs) can occur in the mandible, maxilla, zygoma, or calvarium.

Answer 137

Venous malformations are commonly associated with coagulopathy resulting from the tortuous vessels, abnormal endothelium, and the low-flow characteristics. Tissue thrombosis can be detected as calcified phleboliths on plain radiographs or CT scans, as well as elevated D-dimer in the blood, and often leads to acute and chronic swelling and pain in the affected area.

Answer 138

* Surgical resection of well-circumscribed lesions * Percutaneous sclerotherapy as a primary treatment modality or adjunct to surgery * Laser therapy, including pulsed-dye laser, noncontact neodymium-yttrium-aluminum (Nd:YAG) or potassium titanyl phosphate (KTP) lasers

Answer 139

About 90% are diagnosed before age 2. They often appear as an intraoral mass or neck mass that is nontender and may cause functional concerns, such as difficulty with speech or swallowing or respiratory concerns. They can rapidly enlarge after infection or trauma caused by bleeding or swelling and may be diagnosed in utero during routine prenatal screening.

Answer 140

Based on the size of the cystic component: ● Macrocystic: Single or multiple cysts at least 2-cm large ● Microcystic: Cysts smaller than 2 cm ● Mixed lesions: At least a 50% macrocystic component

Answer 141

● Stage I: Unilateral, infrahyoid ● Stage II: Unilateral, suprahyoid ● Stage III: Unilateral, infrahyoid and suprahyoid ● Stage IV: Bilateral infrahyoid ● Stage V: Bilateral infrahyoid and suprahyoid

Answer 142

● Facial lymphatic malformations lateral to the lateral canthal line tend to be macrocystic, whereas 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 disease is more likely to be microcystic.

Answer 143

* Surgical resection is most successful in **macrocystic** lesions of the posteroinferior neck and parotid regions. **Microcystic** and **mixed** suprahyoid lesions may require subtotal resection while preserving vital structures. * Percutaneous sclerotherapy (e.g., doxycycline, OK-432) may be used as primary control of **macrocystic** lesions and as an adjunct to subtotal resection of **mixed lesions**. * CO2 laser resurfacing can be used to control _mucosal_ microcystic lesions. * Sclerotherapy with OK-432, a lyophilized, low-virulence strain of Streptococcus pyogenes, is best for unilateral **macrocystic** lesions in the infrahyoid area. * Observation: Unilocular or nearly unilocular lesions, especially if they are located in the posteroinferior neck, may spontaneously resolve.

Answer 144

Arteriovenous malformations (AVMs)

Answer 145

It is present since birth but often expands with trauma or hormonal changes and is often warm and red or blue with an audible bruit and palpable thrill.

Answer 146

Schobinger staging system * Stage I (**quiescence**): Pink-bluish stain, warmth, and AV shunting on Doppler ultrasound * Stage II (**expansion**): Stage I plus enlargement, pulsations, thrill, bruit, and tortuous/tense veins * Stage III (**destruction**): Stage II plus dystrophic skin changes, ulceration, bleeding, persistent pain, or tissue necrosis. Bony lytic lesions may occur. * Stage IV (**decompensation**): Stage III, plus congestive heart failure with increased cardiac output and left ventricle hypertrophy (Vs. hemangiomas of infancy Proliferation 2wk-1yr, Involuting 1-7 yr, Involuted 8+)

Answer 147

● MRI: No enhancement on T2-weighted images and flow voids on both T1-weighted and T2-weighted images ● Angiography: Dilatation and lengthening of arteries and early shunting of enlarged veins ● CT: Skeletal involvement

Answer 148

The best chance at cure is a combination of endovascular embolization and surgical resection. The target for embo lization is the nidus, or the abnormal network of vascular channels bridging the arterial and venous systems. Embo lization can be curative in smaller lesions, palliative in complicated or unresectable lesions, or preoperative. Coil embolization is contraindicated.

Answer 149

* Most commonly in the head and neck * F\>M (3:1) * Premature infants weighing less than 1200 g, with the risk increasing by 40% for every 500-g decrease in birth weight * Infants born to mothers of AMA with a history of chorionic villus sampling.

Answer 150

* Focal: * More common * A tumor-like growth pattern * Segmental: * Less common * Diffuse, plaque-like lesion

Answer 151

Segmental lesions are thought to occur in embryologic prominences related to neural crest cells, which influence vascular patterning. Focal lesions occur in identifiable patterns associated with lines of embryonic tissue fusion, such as the central face.

Answer 152

● Proliferative phase: Rapid growth from 2 weeks to 1 year of age ● Involuting phase: Slow regression from 1 to 7 years ● Involuted phase: Complete regression after 8 years of age

Answer 153

Congenital hemangiomas

Answer 154

Two major subgroups exist: ● Rapidly involuting congenital hemangioma (RICH), which show accelerated regression typically by 1 year of age ● Noninvoluting congenital hemangioma (NICH), which do not enter an involution stage

Answer 155

Evaluation of the pattern of proliferation, the pattern of involution, and, importantly, immunostaining. Infantile hemangiomas stain positive for glucose transporter 1 (GLUT1) and Lewis Y (LeY), whereas congenital hemangio mas (RICH and NICH) do not. Placental microvasculature also stains positive for these markers.

Answer 156

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 \> 5 cm 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.

Answer 157

● External auditory canal: First branchial groove ● ET, middle ear, mastoid air cells: First branchial pouch ● Malleus head, incus short process, and body: First branchial arch ● Malleus manubrium, incus long process, stapes supra structure: Second branchial arch ● Stapes footplate: Otic capsule

Answer 158

● BOR syndrome ● Nager syndrome ● Treacher Collins syndrome ● DiGeorge syndrome ● CHARGE association

Answer 159

● Unilateral:bilateral = 4:1 ● Right ear:left ear = 3:2 ● Male \> female ● 55 to 93% are associated with external auditory canal atresia or stenosis. ● 50% are associated with a congenital syndrome.

Answer 160

Marx classification * Grade I: Smaller than normal auricle with mild deformity, but all parts can be distinguished * Grade II: Abnormally small auricle with only partial helical structure preserved * Grade III: Severe deformity with mostly skin-only lobular remnant * Grade IV: Anotia

Answer 161

Takes into account surgery required for repair. ● First-degree dysplasia: Most structures of a normal auricle are present. Reconstruction normally does not require the use of additional skin or cartilage. ● Second-degree dysplasia: All major structures are present to some degree, but there is enough deficiency of tissue that surgical correction requires the addition of cartilage and skin. ● Third-degree dysplasia: Few or no recognizable landmarks, although the lobule usually is present and positioned anteriorly. Total reconstruction requires the use of skin and large amounts of cartilage.

Answer 162

* 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** Type III is classified as **third-degree dysplasia.**

Answer 163

Separated by **2 to 3 months**, starting around 6 years of age 1. Stage I: Auricular reconstruction (creation of a cartilaginous framework with autogenous rib cartilage) 2. Stage II: Lobule transposition 3. Stage III: Atresia repair 4. Stage IV: Construction of tragus 5. Stage V: Auricular elevation

Answer 164

● Pulmonary complications from rib harvest: atelectasis, pneumothorax, pneumomediastinum, pneumonia ● Skin necrosis overlying the cartilage framework ● Chondritis ● Reabsorption ● Malposition of auricular implant ● Tissue breakdown of skin graft or of posterior aspect of ear ● Keloiding of donor incision site or skin-graft areas

Answer 165

Most common: ● Mustardé technique ● Furnas technique Less common: ● Farrior technique ● Converse technique ● Pitanguay technique

Answer 166

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

Answer 167

Weerda Classification for EAC stenosis ● Type A: Marked narrowing of the EAC with an intact skin layer ● Type B: Partial development of the EAC with a medial atretic plate ● Type C: Complete bony EAC atresia

Answer 168

De La Cruz classification system Minor malformations: * Normal mastoid pneumatization * Normal oval window footplate * Favorable facial nerve–footplate relationship * Normal inner ear Major malformations: * Poor mastoid pneumatization * Abnormality or absence of oval window/footplate * Abnormal course of the facial nerve * Abnormalities of the inner ear

Answer 169

Jahrsdoerfer grading system

Answer 170

Audiometric evidence of cochlear function: Ideally, auditory brainstem response (ABR) testing should be performed within first few days of life in patients with bilateral atresia, preferably with unilateral atresia as well. Radiographic three-dimensional evaluation of the temporal bone can be deferred until age 5 or 6 years.

Answer 171

Congenital cholesteatoma (present in 15% of cases of congenital atresia)

Answer 172

● Status of the inner ear ● Extent of temporal bone pneumatization ● Course of the facial nerve ● Presence of the oval window and stapes footplate

Answer 173

● Anterior approach: Drilling area is defined by the temporomandibular joint (TMJ) anteriorly, the middle cranial fossa dura superiorly, and the mastoid air cells posteriorly. ● Mastoid approach: Sinodural angle is first identified and followed to the antrum. The facial recess is opened and the incudostapedial joint separated. The atretic bone is then removed.

Answer 174

Goldenhar syndrome, also known as oculoauriculovertebral dysplasia

Answer 175

● Preauricular appendages and fistulae ● Anomalies of the auricle ● Atresia of the external auditory canal ● Microtia or anotia

Answer 176

* Toxoplasmosis * Other: Syphilis, Coxsackievirus, varicella-zoster virus, HIV, and parvovirus B19, syphilis * Rubella * CMV (most common) * Herpes

Answer 177

SNHL * 50% of children with symptomatic infections * 12% of infants with asymptomatic infections. * Separately, 50% of cases may have a late onset during preschool or early school years.

Answer 178

Temporal bones with characteristic **cytomegalic inclusion bodies** in the superficial cells of: * Stria vascularis * Reissner membrane * Limbus spiralis * Saccule, utricle * Semicircular canals The exact pathophysiology of CMV-induced SNHL is not well understood

Answer 179

Symptomatic infection (rubella syndrome) * Occurs in the **1st trimester** of pregnancy producing hearing loss in approximately **50%** of patients. * Cardiac malformations, visual loss (e.g., cataracts, glau coma, retinitis, microphthalmia), osteitis, motor deficits, thrombocytopenic purpura, hepatosplenomegaly, icterus, anemia, low birth weight, and cerebral damage and mental retardation. Asymptomatic infection * Occurs during the **2nd or 3rd trimesters** of pregnancy and is **silent at birth**. It is associated with hearing loss in **10-20%** of patients. Hearing loss is most commonly seen audiometrically as a cookie-bite pattern.

Answer 180

● Cochleosaccular degeneration (Scheibe dysplasia) ● Strial atrophy

Answer 181

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

Answer 182

* Sensorineural hearing loss * Interstitial keratitis * Hutchinson teeth (notched incisors) * Mulberry molars * Clutton joints (bilateral painless knee effusions) * Nasal septal perforation and saddle deformity * Frontal bossing * Skeletal findings: Osteochondritis and periostitis of long bones leading to “saber shin” deformity

Answer 183

* 90% ASx at birth * Subclinically infected infant may later develop progressive lesions * **SNHL (calcified scars in the stria vascularis)** * Chorioretinitis * Progressive CNS involvement (dec IQ) * Precocious puberty

Answer 184

* Complete labyrinthine aplasia (**Michel aplasia**): Arrest at **week 3** of gestation * Common cavity: Arrest at week 4 or 5 of gestation * Cochlear hypoplasia: Arrest at week 5 of gestation * Cochlear aplasia: Arrest at week 6 of gestation * Incomplete partition (**Mondini malformation**, MC): Arrest at **week 7** of gestation

Answer 185

Michel aplasia

Answer 186

Developmental arrest of the **otic placode** _before_ **gestational week 3**. It has also been associated with **thalidomide** exposure.

Answer 187

Mondini malformation

Answer 188

Pendred syndrome

Answer 189

1. Enlarged vestibular aqueduct 2. Semicircular canal deformities 3. Communication with subarachnoid space (increased risk for meningitis)

Answer 190

Perilymphatic (CSF) gusher. This complication is not a contraindication to implantation, as good hearing out comes have been demonstrated despite significant peri lymphatic gusher noted intraoperatively, but patients should be counseled appropriately regarding the increased risk (although low) of a dead ear or bacterial meningitis.

Answer 191

Scheibe dysplasia (cochleosaccular dysplasia)

Answer 192

Alexander aplasia. High-frequency hearing loss is most prominent, whereas low frequency is relatively preserved.

Answer 193

It is a combination of SNHL, inner ear abnormalities (wide range), and enlarged vestibular aqueduct that can be associated with: * Pendred syndrome * Distal renal tubular acidosis * Waardenburg syndrome * X-linked congenital mixed deafness * BOR syndrome * Otofaciocervical deafness * Noonan syndrome.

Answer 194

On CT, the aqueduct is greater than **1.5 mm wide** at the midpoint between the common crus and its external aperture. This is **roughly the diameter of the posterior semicircular canal.** However, this is controversial, and diagnostic thresholds have been reported from **0.9 to 2 mm** at the midpoint and **1.9 to 4 mm** at the operculum.

Answer 195

**~60%** of cases of congenital SNHL is genetic * 30% of these considered syndromic (MC Pendred) * 70% nonsyndromic.

Answer 196

● 80% of cases are autosomal recessive. ● 20% of cases are autosomal dominant. ● \< 2% of cases are due to X-linked and mitochondrial mutations.

Answer 197

Usher syndrome. The subtypes are distinguished by the severity and progression of hearing loss and the presence or absence of vestibular dysfunction, with visual loss due to retinitis pigmentosa being common to all three subtypes.

Answer 198

* Type 1: _Profound_ congenital deafness and _absent vestibular function (vestibular ataxia)_, onset of retinitis pigmentosa before puberty (~ 10yr). AR. * Type 2: _Moderate to severe_ hearing loss at birth. Normal vestibular function. Onset of retinitis pigmentosa is in late teens. AR most common * Type 3: _Progressive_ hearing loss. _Variable_ vestibular function. Retinitis pigmentosa begins at puberty. AR * Type 4: Clinically similar to type 2 but with XR inheritance

Answer 199

* Marked atrophy of the **organ of Corti** in the basal turn associated with **spiral ganglion degeneration**. * These cochlear changes are similar to **Scheibe inner ear dysplasia**.

Answer 200

Pendred syndrome

Answer 201

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

Answer 202

vell and Lange-Nielson syndrome (autosomal recessive)

Answer 203

* **KVLQT1** and **KCNE1** * These genes encode for subunits of a K⁺ channel expressed in the **heart** and **inner ear**. * Hearing impairment is due to **changes in endolymph homeostasis** caused by malfunction of this channel. * S/Sx: Syncopal events, seizures, and life-threatening cardiac arrhythmias resulting in sudden death.

Answer 204

Waardenburg Consortium in 1992: 2 majr or 1 maj + 2 min Major Criteria: * Congenital SNHL (up to 60%) * Iris pigmentary abnormality (two eyes of different colors, heterochromia iridis; one eye of different colors; segmental heterochromia; brilliant blue/sapphire iris) * Hair hypopigmentation (white forelock or white body hair) * Distopia canthorum (lateral displacement of the inner canthi, decreased visible sclera medially) * First-degree relative previously diagnosed with Waardenburg syndrome Minor Criteria: * Congenital leukodermia (several areas of hypopigmented skin) * Synophrys or medial eyebrow flare * Broad, high, nasal root * Hypoplastic alae nasi * Premature graying of hair (white scalp hair before age 30, generally occurring midline instead of at the temples) Rare: Hirschsprung disease, Sprengel anomaly, spina bifida, cleft lip and/or palate, limb defects, congenital heart anomalies, abnormal vestibular function, broad square jaw, low anterior hairline.

Answer 205

1. Type 1: 2 major or 1 major + 2 minor 2. Type 2: Type 1 without dystopia canthorum 3. Type 3 (or **Klein-Waardenburg syndrome**): Type 1 with hypoplasia or contracture of the upper limbs 4. Type 4 (or **Waardenburg-Shah syndrome**): AR or AD; Type 1 with Hirschsprung disease or other neurologic disorders

Answer 206

PAX3 is the only gene shown to cause Waardenburg syndrome type 1.

Answer 207

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

Answer 208

● Temporal bone abnormalities occur in approximately 50% of patients ● Aplasia or hypoplasia of the posterior semicircular canal (most common finding, seen in 26% of cases) ● Vestibular aqueduct enlargement ● Widening of the upper vestibule ● Iinternal auditory canal (IAC) hypoplasia ● Decreased modiolus size

Answer 209

Stickler syndrome.

Answer 210

High-frequency SNHL, CHL, or a mixed hearing loss. The mechanism of high-frequency SNHL is unknown. CHL is typically due to craniofacial abnormalities causing recurrent otitis media with effusion. Ossicular abnormalities resulting from collagen defects may also cause CHL.

Answer 211

● Type 1: Normal hearing or mild impairment ● Type 2: Mild to moderate hearing loss ● Type 3: Moderate to severe hearing loss

Answer 212

Autosomal dominant (rare autosomal recessive subtypes): ● Type 1: COL2A1 → α1 chain of type II collagen (major component of cartilage, vitreous, and nucleus pulposis); type 1 vitreous subtype, most common ● Type 2: COL11A1 → α1 chain of type XI collagen; also seen in Marshall syndrome, type 2 vitreous subtype ● Type 3: COL11A2 → alpha α3 chain of type XI collagen, no ophthalmologic abnormality

Answer 213

3 maj or 2 maj + 2 minor or 1 maj and 1/1 relative Major criteria * 1st and 2nd branchial anomalies * Preauricular pits/cysts * Deafness (90%; can be SNHL, CHL, or mixed) * Renal anomalies (mild hypoplasia to aplasia) Minor criteria * Preauricular tags * External, middle, inner ear anomaly * Facial asymmetry * Palate abnormalities

Answer 214

● Preauricular cysts/pits (82%) ● Preauricular tags ● Auricular malformations (32%) ● Microtia ● External auditory canal stenosis or atresia

Answer 215

● Ossicular malformation ● Facial nerve dehiscence ● Absence of the oval window ● Reduction in size of the middle ear cleft ● ET dilatation ● Absence of the stapedius muscle

Answer 216

* Cochlear hypoplasia or dysplasia * Enlargement of the cochlear or vestibular aqueducts * Hypoplasia of the lateral semicircular canal * Deviation of the labyrinthine facial nerve canal medial to the cochlea * Funnel-shaped IAC with a large porus acousticus

Answer 217

Treacher-Collins syndrome

Answer 218

* Microtia, aural meatal atresia, and CHL 2/2 ossicular chain malformations * EAC atresia or replacement of the TM with bony plate * SNHL and vestibular dysfunction also can be present.

Answer 219

TCOF-1 gene, chromosome 5q31.3–q33.3, protein: treacle. Autosomal dominant (types 1 and 2). Treacle is important in the neural crest cells of the branchial arches and may be responsible for the malformation of branchial arch 1 and 2 seen in this disorder.

Answer 220

Treacher Collins syndrome has symmetric facies and bilateral eyelid colobomas.

Answer 221

● NF1: 17q11.1, NF1 gene, encodes neurofibromin, results in a loss of function mutation ● NF2: 22q12.2, NF2 gene, encodes merlin (tumor suppressor)

Answer 222

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

Answer 223

False. Bevacizumab, an angiogenesis inhibitor, has recently been shown to improve hearing and shrink tumors in up to 50% of NF2 patients with progressive vestibular schwan noma.

Answer 224

● Bilateral vestibular schwannomas that usually develop by the second decade of life or a family history of NF2 in a first-degree relative, plus one of the following: ● Unilateral vestibular schwannomas \< 30 years of age ● Any two of the following: meningioma, glioma, schwan noma, or juvenile posterior subcapsular lenticular opac ities/juvenile cortical cataract

Answer 225

Apert syndrome

Answer 226

Conductive hearing loss, typically from persistent middle ear effusions

Answer 227

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

Answer 228

* Craniosynostosis * Hypoplastic midface * Exophthalmos * Hypertelorism * Mandibular prognathism

Answer 229

* Ossicular anomalies * Chronic otitis media * Persistent middle ear effusion * Tympanic membrane perforation

Answer 230

3+ of 4: 1. Fam hx hematuria w/wo chronic renal failure 2. Histologic changes of the gBM in the kidney 3. Progressive high-freq SNHL 4. Typical eye lesion (anterior lenticonus, macular flecks)

Answer 231

Type IV collagen

Answer 232

Bilateral SNHL can be detected by late childhood, is symmetric, and begins in the high-frequency ranges. Over time, it progresses to involve all frequencies over time.

Answer 233

* CHL, due to ossicular deformities * Cleft palate, flat midface, frontal bossing, hypertelorism, small nose * Abnormalities of the fingers and toes

Answer 234

● Tensor veli palatini ● Levator veli palatini ● Salpingopharyngeus ● Tensor tympani

Answer 235

● Regulation of middle ear pressure ● Clearance of middle ear secretions ● Protection of the middle ear from nasopharyngeal sound and accumulation of nasopharyngeal secretions

Answer 236

Anatomical factors (shorter eustachian tubes with a more horizontal orientation; the eustachian tube reaches adult length by 7 years of age): ● Adenoid hypertrophy ● Allergy ● Sinonasal disease ● Craniofacial anomalies (e.g., cleft palate, Down syndrome) ● Neoplasm ● Extraesophageal reflux ● Genetic predisposition

Answer 237

Negative middle ear pressure is caused by failure of the eustachian tube to open as a result of ● Physical obstruction: Adenoid hypertrophy, tumor, stenosis, hypertrophy/edema of mucosa lining the eustachian tube ● Physiologic obstruction: Failure of muscles involved in opening the Eustachian tube

Answer 238

● 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

Answer 239

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

Answer 240

Three or more documented and separate episodes of AOM in the previous 6 months, or at least four documented and separate episodes in the previous 12 months, with at least one in the prior 6 months Note: Persistent AOM refers to the persistence of signs/ symptoms of AOM during antimicrobial therapy, signifying treatment failure, or relapse within 1 month (which may be difficult to differentiate from recurrent AOM)

Answer 241

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

Answer 242

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

Answer 243

Streptococcus pneumoniae (31.7%) Non-typable Haemophilus influenzae (28.4%) Moraxella catarrhalis (13.9%)

Answer 244

Immediate oral antibiotic therapy: If the child is younger than 6 months; if the child has severe signs/symptoms (e.g., moderate or severe ear pain, ear pain \> 48 hours, temperature \> 39ºC or 102.2ºF); and if the child is younger than 24 months and has bilateral AOM Observation or oral antibiotics: If the infant is aged 6 to 24 months and has nonsevere unilateral AOM and if the child is younger than 24 months and has nonsevere unilateral or bilateral AOM Note: Pain control with ibuprofen and/or acetaminophen is also important.

Answer 245

First line: Amoxicillin β-lactam resistance (i.e., patient has received a β-lactam antibiotic in the previous 30 days, has concomitant purulent conjunctivitis [commonly Haemophilus influenza], or has a history of resistance to amoxicillin): Amoxicillin-clavulanate. Penicillin allergy: Macrolides (e.g., azithromycin, clarithro mycin, erythromycin) or clindamycin. Macrolides are not effective against H. influenza.

Answer 246

Clinical practice guideline 2013: Tympanostomy tubes in children: An age-appropriate hearing test should be obtained if otitis media with effusion (OME) is present for 3 months or longer or before surgery when the child meets the criteria for tympanostomy tube placement.

Answer 247

Clinical practice guideline 2013: Tympanostomy tubes in children: Single episode of otitis media with effusion of less than 3 months’ duration Recurrent episodes of acute otitis media without middle ear effusion in either ear at the time of evaluation for possible tube placement

Answer 248

Clinical practice guideline 2013: Tympanostomy tubes in children: ● Bilateral TTs should be offered to children with bilateral OME for 3 months or longer (chronic OME) and documented hearing difficulties. ● Bilateral or unilateral TTs may be offered to children with unilateral or bilateral OME for 3 months or longer (chronic OME) and symptoms that are likely related to OME, which include, but are not limited to, vestibular problems, poor school performance, behavior problems, ear discomfort, or reduced quality of life. ● Bilateral or unilateral TTs should be offered to children with recurrent acute OME at evaluation. ● Bilateral or unilateral TTs may be offered to at-risk children\* with unilateral or bilateral OME that is unlikely to resolve quickly (flat, type B tympanogram; chronic OME) \*At risk: Recurrent acute otitis media (AOM) or with OME of any duration in a child at increased risk for speech, language or learning problems, from otitis media due to baseline sensory, physical, cognitive or behavioral factors

Answer 249

Clinical practice guideline 2013: Tympanostomy tubes in children: Clinicians should not encourage routine, prophylactic water precautions (use of ear plugs, headbands; avoidance of swimming or water sports) for children with tympanostomy tubes.

Answer 250

The least invasive approach to achieving a safe ear include the following options: ● Tympanoplasty ● Atticotomy ● Intact canal wall tympanomastoidectomy ● Canal wall down tympanomastoidectomy ● Modified radical mastoidectomy ● Radical mastoidectomy

Answer 251

● Primary acquired cholesteatoma: Occurs without evidence of preexisting perforation or infection and may arise in the pars flaccida. ● Secondary acquired cholesteatoma: Occurs as a result of traumatic or iatrogenic perforation or infection, arises in the pars tensa (most commonly in the posterior superior quadrant) or in an area of prior trauma.

Answer 252

A congenital cholesteatoma is an epidermal inclusion cyst in the middle ear without any history of prior otorrhea, tympanic membrane perforation, or previous surgery on the ear. The examination should reveal an intact pars tensa and pars flaccida. The mass is most often located in the anterior superior quadrant of the pars tensa.

Answer 253

Ectodermal cells within the developing external auditory canal migrate through the tympanic isthmus into the middle ear and form the substrate for the congenital cholesteatoma.

Answer 254

Remnants of ectodermal tissue found normally in the middle ear of the developing fetus persist to form the congenital cholesteatoma.

Answer 255

Same as for the adult population: ● Tympanoplasty ● Canal wall-up tympanomastoidectomy ● Canal wall-down tympanomastoidectomy

Answer 256

● Whiplash ● Basilar artery migraine ● Seizures ● Posterior fossa tumor ● Benign paroxysmal vertigo of childhood ● Traumatic head injuries ● Ocular or ophthalmological disorders ● Enlarged vestibular aqueduct syndrome

Answer 257

Spells of vertigo and disequilibrium without tinnitus or hearing loss. Children often subsequently develop migraines.

Answer 258

● Otitis media or a suppurative complication such as labyrinthitis ● Perilymphatic fistula ● Inner ear congenital malformation ● Metabolic abnormality ● Vestibular neuronitis ● Congenital infection ● Ménière disease

Answer 259

Same treatment as for adults: ● Salt- and caffeine-restricted diet ● Weight-dosed diuretics

Answer 260

Episodic vestibular symptoms ● Migraine according to International Headache Society criteria ● At least one of the following migraine-related symptoms during at least two vertiginous attacks: migrainous headache, photophobia, phonophobia, visual or other auras ● Other causes ruled out by appropriate investigations

Answer 261

● Migraine-associated vertigo: Vertigo may last longer than 24 hours, SNHL is uncommon and rarely progressive, tinnitus is rarely obstrusive, and photophobia is often present. ● Ménière disease: Vertigo can last up 24 hours but not longer, SNHL is generally progressive, tinnitus is intense, and photophobia is never present.

Answer 262

Basilar migraine. Also known as Bickerstaff syndrome.

Answer 263

Dizziness may occur as an aura, followed by typical features of an epileptic seizure, or vertigo may occur as the only feature of the seizure.

Answer 264

Familial ataxia syndrome. Treated with acetazolamide.

Answer 265

● Traumatic versus developmental ● Unilateral versus bilateral ● Complete versus incomplete

Answer 266

Congenital/traumatic: Conditions acquired at or during birth (e.g., birth trauma, etc.) Developmental: Abnormalities that occur during fetal development either in isolation or as a component of a named syndrome (e.g., Möbius, Goldenhar, CHARGE, etc.)

Answer 267

Most traumatic cases of congenital facial palsy recover spontaneously, whereas developmental causes generally carry a poor prognosis. Also important for medicolegal reasons.

Answer 268

Birth trauma

Answer 269

● Forceps-assisted delivery ● Birth weight \> 3,500 g ● Primiparity ● Prolonged labor

Answer 270

Asymmetric crying facies, hemotympanum, periauricular ecchymosis, facial swelling, other injuries

Answer 271

● Supranuclear, nuclear, infranuclear, cerebellopontine an gle facial nerve fibers: Central neurologic examination, CT scan ● IAC facial nerve fibers: Electroneurography (ENG), audiologic examination, CT scan ● Geniculate ganglion, greater superficial petrosal nerve: Schirmer test (tear test) ● Tympanomastoid facial nerve fibers: Stapedial reflex test, salivation ● Extracranial facial nerve fibers: Facial movement

Answer 272

Electroneuronography (ENOG) (test of choice): ● Quantitative evaluation of nerve degeneration ● Within 48 hours of traumatic injury, the ENOG is generally normal (can take up to 4 days for the extracranial nerve fibers to demonstrate dysfunction). ● ENOG is generally absent or weak in developmental facial palsy as a result of long-standing nerve hypoplasia or aplasia. ● If deterioration is greater than 90%, surgical decom pression may be considered; however, most authorities recommend waiting 5 weeks with newborns. Other tests include the nerve excitability test, maximum stimulation threshold, electromyography, and topodiag nostic tests (rarely used).

Answer 273

● Aplasia or hypoplasia of the cranial nerve nuclei ● Nuclear agenesis ● Peripheral nerve anomalies (aplasia, hypoplasia, bifurca tion or anomalous course) ● Primary myopathy

Answer 274

Ethanol, 13-cisretinoic acid, methotrexate, ionizing radia tion, thalidomide

Answer 275

This syndrome may also be associated with lower ex tremity abnormalities (club foot), mental retardation, external ear deformities, and ophthalmoplegia. Möbius syndrome

Answer 276

Studies have suggested a high incidence of **vascular insults** in utero. Several reports of **teratogenic exposure** (misoprostol, cocaine, ergotamine) resulting in **vascular insults** have been associated with Möbius syndrome.

Answer 277

Yes. It is also known as oculoauriculovertebral dysplasia or hemifacial microsomia and involves defects in first and second branchial arch derivatives. Patients frequently have hearing loss, and up to 50% have facial nerve dysfunction.

Answer 278

Albers-Schoenberg disease

Answer 279

Congenital lower-lip palsy (asymmetric crying facies)

Answer 280

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

Answer 281

1. Apert syndrome 2. Ectodermal dysplasia 3. Orofacial-digital I/II 4. Stickler 5. Treacher-Collins 6. Van der Woude 7. Waardenberg syndromes

Answer 282

● Premaxilla ● Lip ● Nasal tip ● Columella

Answer 283

● Palatine process of the maxilla ● Horizontal plate of palatine bone

Answer 284

Unilateral (right or left) or bilateral Complete (involves the entire vertical thickness of the upper lip with extension into the nasal floor, often associated with an alveolar cleft) or incomplete (extending from a slight muscular diastasis at the vermilion to a small bridge of tissue at the nasal sill called the Simonart band)

Answer 285

● Primary (involvement anterior to the incisive foramen) or secondary (involvement posterior to the incisive foramen) palate ● Unilateral (one palatal process is fused with the septum, resulting in oronasal communication on one side only) or bilateral (no connection between either palatal process and the septum) ● Complete (cleft of both primary and secondary palate) or incomplete (involves the secondary palate only, and has varying degrees of severity)

Answer 286

● Lateral and inferior displacement of alar base and lateral crus, causing the dome to be flattened and rotated downward on the cleft side ● Columella: Short, causing a horizontal orientation to the nostril on the cleft side ● Septum: Tends to deviate toward the cleft side, with the cartilaginous base displaced off of the maxillary crest toward the cleft side. This septum malposition contrib utes to nasal tip tilt toward the noncleft side.

Answer 287

6 to 12 weeks: Repair cleft lip 10 to 13 months: Repair cleft palate, consider PETs 2 to 5 years: Manage VPI, consider lip/nose revision 6 to 11 years: Orthodontic evaluation and treatment, alveolar bone graft 12 to 21 years: Orthodontics and restorative dentistry, orthognathic surgery (if needed), rhinoplasty (if needed, typically the last procedure performed)

Answer 288

● At least 10 weeks old ● Weighs at least 10 pounds ● Hemoglobin of at least 10 g/dL In the era of modern pediatric anesthesia, these criteria are not as relevant.

Answer 289

A lip adhesion procedure converts a complete cleft lip into an incomplete cleft lip at between 2 and 4 weeks of age, potentially allowing the definitive lip repair to be performed with less tension.

Answer 290

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

Answer 291

1. Straight-line repair (Rose-Thompson repair) 2. Triangular flap repair (Tennison-Randall repair, Skoog repair) 3. Rotation/advancement repair (**Millard technique, most commonly used**; Mohler technique)

Answer 292

Millard rotation-advancement technique for cleft lip repair

Answer 293

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

Answer 294

Velopharyngeal insufficiency

Answer 295

● 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

Answer 296

Occult submucous cleft palate

Answer 297

● Coronal (most common) ● Circular ● Circular with a Passavant ridge ● Sagittal

Answer 298

* Nasopharyngeal augmentation * Sphincter pharyngoplasty * Pharyngeal flap * Palatoplasty

Answer 299

Gingival cysts of newborns (aka dental lamina cysts)

Answer 300

● Epstein pearls: Cystic, keratin-filled nodules found along the 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 hard and soft palate and apparently derived from palatal salivary gland structure

Answer 301

Viral infection often precedes bacterial infection, which can be caused by group A β-hemolytic streptococcus (most common), Moraxella catarrhalis, and H. influenzae.

Answer 302

Penicillin: Consider β-lactamase inhibitor. For patients who have penicillin allergies, consider clindamycin.

Answer 303

● Seven or more episodes of tonsillitis in the past 12 months, or ● Five or more episodes per year in the past 2 years, or ● Three or more episodes per year in the past 3 years

Answer 304

**Polymicrobial infection.** Treatment options include long term **β-lactamase inhibitor antibiotic** or **tonsillectomy**.

Answer 305

Tonsiliths are tonsillar concretions of retained material and bacterial growth in crypts within tonsil and adenoid tissue. They are sometimes identified in patients without a clinical history suggestive of chronic tonsil disease. Conservative therapy includes the use of water jets, manual expression, gargling, or cauterization of the crypts with silver nitrate.

Answer 306

Adenoiditis. Also associated with chronic mouth breathing, "adenoid facies" (long thin face, high arched palate, malar hypoplasia, open mouth), and hyponasal speech

Answer 307

Growth retardation, poor school performance, enuresis, and behavioral problems

Answer 308

● Abnormal study: Pulse oximetry \< 92% or apnea plus hypopnea index (AHI) \> 1 (more than one event in two or more consecutive breaths per hour) ● AHI \> 5 warrants consideration of tonsillectomy (no strict cutoff, somewhat controversial); these children should be kept in the hospital for observation after surgery.

Answer 309

0: Not visible; tonsils do not reach tonsillar pillars 1 + : Less than 25% of transverse oropharyngeal space (measured between the anterior tonsillar pillars) 2 + : 25 to 49% of transverse oropharyngeal space 3 + : 50 to 74% or transverse oropharyngeal space 4 + : 75% or more of the transverse oropharyngeal space

Answer 310

0: Not visible 1 + : \< 25% of choanae 2 + : 25 to 49% of choanae 3 + : 50–74% of choanae 4 + : 75% of choanae

Answer 311

● Medial: Palatine tonsil ● Anterior: Anterior tonsillar pillar ● Posterior: Posterior tonsillar pillar ● Lateral: Superior pharyngeal constrictor muscle (lateral to this is the parapharyngeal space) ● Superior: Confluence of the anterior and posterior tonsillar pillars with the soft palate

Answer 312

Treatment consists of incision and drainage of this presumed peritonsillar abscess, along with antibiotics, pain management, and consideration for steroids. Quinsy tonsillectomy should be considered in a child with recurrent tonsillitis undergoing incision and drainage of a peritonsillar abscess under anesthesia.

Answer 313

The glossopharyngeal nerve runs just lateral to the superior constrictor muscle in the floor of the tonsillar bed. Injury or postoperative edema may result in altered taste to the posterior third of the tongue and referred otalgia resulting from irritation of the tympanic nerve, a branch of cranial nerve IX.

Answer 314

Although this tissue offers active immunologic protection via B and T cell activity, there appears to be no clinically relevant immunologic sequelae associated with performing adenotonsillectomy,

Answer 315

● Tonsillar hypertrophy resulting in upper airway obstruc tion, severe dysphagia, sleep disordered breathing, cor pulmonale ● Unilateral tonsillar hypertrophy, or other concern for possible malignancy ● Tonsillitis resulting in febrile convulsions ● Persistent or recurrent tonsillar hemorrhage

Answer 316

● Three or more infections per year despite adequate medical therapy ● Persistent halitosis despite medical therapy ● Streptococcus carrier with recurrent or chronic infection despite adequate medical therapy Note: Because adenoid tissue has similar bacteriology to the pharyngeal tonsils and minimal additional morbidity occurs with adenoidectomy, if tonsillectomy is already being performed, most surgeons perform adenoidectomy if adenoids are present and inflamed at the time of tonsillectomy. However, this point remains controversial.

Answer 317

● Potential for velopharyngeal insufficiency: Cleft palate, submucosal cleft palate, neuromuscular palatal dysfunc tion (relative contraindication for adenoidectomy, not tonsillectomy; consider superior segment adenoidectomy only) ● Hematologic: Coagulopathy, hemophilia, leukemia, etc. (relative; requires hematology assistance) ● Infections: Acute pharyngitis (relative)

Answer 318

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

Answer 319

Pulmonary edema

Answer 320

7 to 10 days postoperatively as a result of sloughing of eschar

Answer 321

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

Answer 322

1. Recurrent acute adenoiditis (five to **seven** infections per year, **five** infections in 2 years, **three** infections in 3 years, or \> 2 weeks of missed school or work in 1 year). 2. Chronic adenoid inflammation and infection, halitosis, or cervical lymphadenopathy 3. Dysphagia, not otherwise specified 4. Recurrent eustachian tube dysfunction requiring second set of tympanostomy tubes or recurrent sinusitis

Answer 323

Recurrent respiratory papillomatosis (RRP)

Answer 324

● \< 5 years = juvenile-onset recurrent respiratory papillo matosis (JORRP) ● \> 40 years = adult onset recurrent respiratory papilloma tosis (AORRP)

Answer 325

Clinical triad Firstborn (longer labor) Mother is \< 20 years of age (more likely a lower socio economic status and recent infection) Vaginal birth in a mother with genital chondylomata

Answer 326

HPV 6 or 11. Larynx.

Answer 327

Vertical transmission during vaginal birth or less commonly transplacental infection. In older children, infection can occur via accidental inoculation or sexual abuse.

Answer 328

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

Answer 329

Hoarseness, dysphonia, cough, dysphagia, inspiratory stri dor, and potentially respiratory distress from airway obstruction

Answer 330

Laser resection/ablation and microdebridement

Answer 331

Injection of cidofovir into the base of the lesion after resection. In addition, interferon-α, indol-3-carbinol, HspE7, and the mumps vaccine may be considered.

Answer 332

There is a risk of spreading disease to the distal tracheobronchial tree.

Answer 333

Document benign disease, document human papillomavi rus (HPV) infection, attain polymerase chain reaction (PCR) for HPV serotype (prognostic), rule out carcinoma.

Answer 334

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

Answer 335

HPV 6, 11, 16, and 18

Answer 336

Laryngotracheobronchitis (croup)

Answer 337

Parainfluenza virus (up to 75%). The most common subtype is parainfluenza type 1.

Answer 338

Subglottis

Answer 339

Westley croup scale ● Lev of consciousness: Normal (inc sleep) = 0, altered = 5 ● Cyanosis: None = 0; with agitation = 4; at rest = 5 ● Stridor: None = 0; when agitated = 1; at rest = 2 ● Air entry: Normal = 0; decreased = 1; markedly decreased = 2 ● Intercostal retractions: None = 0; mild = 1; moderate = 2; severe = 3 Severity ● Mild croup: ≤ 2 (e.g., barky cough, hoarse cry, no stridor at rest) ● Moderate croup: 3 to 7 (e.g., stridor at rest, mild retractions, little to no agitation) ● Severe croup: ≥ 8, (e.g., significant stridor at rest, severe retractions, anxious/agitated/lethargic)

Answer 340

Anterior-posterior chest radiograph; "steeple sign" or sub glottic narrowing

Answer 341

● All children with respiratory distress may benefit from supplemental oxygen. ● Mild: Single dose of oral dexamethasone ● Moderate: Dexamethasone, nebulized epinephrine, and/ or nebulized budesonide ● Severe: Dexamethasone, nebulized epinephrine

Answer 342

Acute spasmodic laryngitis (false croup)

Answer 343

Acute epiglottitis

Answer 344

Most common cause: Haemophilus influenzae type b (Hib) despite immunization (lack or failure of immunization). Other common causes include Streptococcus pneumoniae, Staphylococcus aureus, and β-hemolytic streptococcus. Noninfectious causes include thermal or chemical injuries, trauma, angioedema, hemophagocytic lymphohistiocyto sis, and some acute leukemias.

Answer 345

Drooling is reliably associated with epiglottitis (3 Ds of epiglottitis are drooling, distress, and dysphagia). Less reliable hallmarks include preference for sitting or sniffing position, refusal to eat or drink, inability to swallow, odynophagia, a higher grade temperature, and vomiting.

Answer 346

● Mild distress (other diagnoses are more likely): Visualize the epiglottis (using tongue depressor or flexible endos copy). The child should be kept in a calm environment where an airway can be secured immediately. Antero posterior/lateral radiograph: "Thumbprinting" of the epiglottis or supraglottic edema ● Moderate to severe distress: Do not attempt to visualize the airway or otherwise disturb the child. IV, blood draw, rectal temperature, etc., should be performed. Remember, bag valve-mask ventilation is feasible in almost all cases of acute epiglottitis. An experienced provider should evaluate the airway after intubation. After securing the airway, blood work and airway cultures should be obtained.

Answer 347

1. **Empiric antibiotics** (third-gen cephalosporin and an antistaph/MRSA agent) 2. Possibly corticosteroids (although controversial).

Answer 348

Resolution of the inflammation, edema, and erythema of the supraglottic structures on interval airway examination (generally 2 to 3 days) and/or the presence of an air leak in addition to clinical improvement

Answer 349

Previous trauma, viral infection, or anything that alters the local immunity, thus increasing the risk of a bacterial superinfection

Answer 350

The smallest diameter in the pediatric airway is at the cricoid cartilage. Any edema or narrowing of this can significantly compromise a child's respiratory status. Ac cording to Poiseuille’s law, airway resistance is inversely proportional to the radius of the airway to the fourth power. So in a 4-mm infant airway, if there is 1 mm of edema, the diameter is reduced by 50%, the cross-sectional area is reduced by 75%, and resistance increases 16-fold. By contrast, in an adult airway, 1 mm of edema only causes a 25% decrease in diameter, 44% decrease in area, and 3-fold increase in resistance. More than 90% of children diagnosed with bacterial tracheitis require intubation.

Answer 351

Airway obstruction resulting from sloughing of fibrinous/ mucopurulent debris or membrane. Mortality rates (his torically high) have been decreasing as a result of early recognition, aggressive pulmonary toilet, early antibiotics, and airway protection via intubation when necessary.

Answer 352

False. Initiation of broad-spectrum empiric antibiotics is imperative. However, IV access should not be attempted in a child demonstrating respiratory distress, as agitation may precipitate acute airway collapse. Once the airway is stable or secured, obtain IV access.

Answer 353

Corynebacterium diphtheriae (gram-positive bacillus). Diag nosis = culture and positive toxin assay

Answer 354

Systemic absorption of toxin

Answer 355

1. Vaccination: Immune individuals can be asymptomatic carriers. 2. Tx 1. Careful airway management (extreme caution with intubation, early consideration for tracheostomy) 2. Diphtheria antitoxin, **erythromycin** or **penicillin** 1. Serial EKG, cardiac enzymes 2. Serial neuro checks 3. Immunize contacted indiv

Answer 356

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

Answer 357

Chromosome 22q11.2 deletion

Answer 358

22q11.2 deletion syndromes (e.g., velocardiofacial syndro me, DiGeorge syndrome, conotruncal anomaly face syn drome

Answer 359

Cohen’s classification of glottic webs: ● Type I: Thin anterior web, \< 35% glottic involvement, mild hoarseness ● Type II: Thin to moderately thick web, 35 to 50% glottic involvement, weak cry, mild airway symptoms ● Type III: Thick web, possible anterior cartilaginous subglottic extension, 50 to 75% glottic involvement, weak voice, moderate airway symptoms ● Type IV: Thick web, 75 to 90% glottic involvement, cartilaginous subglottic extension, no cry, severe airway distress (tracheostomy)

Answer 360

Posterior laryngeal web

Answer 361

**EXIT (ex utero intrapartum treatment)** and **tracheostomy**. With early detection, patients may undergo **fetal bronchoscopy** with attempted **wire tracheoplasty** as an adjunct procedure.

Answer 362

● Mild webs: Endoscopic division can be attempted but is often unsuccessful. ● Posterior webs: Tracheostomy with delayed decannula tion, laryngotracheal reconstruction with posterior cri coidotomy, and grafting ● Anterior webs: Laryngotracheal reconstruction or lar yngofissure with Silastic keel placement, with or without tracheostomy

Answer 363

Subglottic, or cricoid, diameter \< 3.5 mm

Answer 364

Congenital subglottic stenosis

Answer 365

Elliptical cricoid cartilage, laryngeal cleft, cricoid flattening (possibly from a trapped first tracheal ring), a large anterior lamella, generalized mucosal thickening

Answer 366

Cotton-Myer grading system ● Grade I: \< 50% obstruction ● Grade II: 51 to 70% obstruction ● Grade III: \> 70% obstruction with a detectable lumen ● Grade IV: No detectable lumen

Answer 367

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

Answer 368

1. Grade I: Generally conservative management 2. Grade II and III: Tracheostomy or other surgical intervention\* 3. Grade IV: Tracheostomy or other surgical intervention\*\* \***Dilatation for soft stenosis**, **laryngotracheal reconstruction** with anterior and/or posterior grafts, anterior cricoid split (rarely performed today), **cricotracheal resection** \*\***Cricotracheal resecton**

Answer 369

Leave a small drain (Penrose or rubber band) to allow egress of air.

Answer 370

The shape is a modified “boat” if there is no tracheostomy site to close (i.e., no tracheostomy tube in place or double stage procedure). If performing a single-stage procedure and closing tracheostoma, a teardrop shape is used. Perichondrium is left intact facing toward the lumen.

Answer 371

Posterior cricoid split is done via laryngofissure or anterior cricoid split and placement of posterior costal cartilage graft, which may require suprastomal stenting for a period postoperatively, but often an endotracheal tube in the postoperative period will be an adequate stent.

Answer 372

100%. It may extend to the interarytenoid space and into the posterior tracheal wall.

Answer 373

No. This is the key difference between single- and double staged LTR procedures. Patients are generally nasotra cheally intubated at the end of the procedure and kept intubated for 2 to 7 days, depending on the extent of the surgical intervention.

Answer 374

False. Single-staged LTR may include anterior grafts, posterior grafts, or both.

Answer 375

The incision should incorporate the superior margin of the tracheostoma.

Answer 376

Cricotracheal resection (CTR) (cricoid resection, thyrotra cheal anastomosis) is the only option for grade IV subglottic stenosis. Laryngotracheal reconstruction with anterior and posterior grafts or CTR can be considered for high-grade III subglottic stenosis.

Answer 377

Slide tracheoplasty

Answer 378

● The procedure can be done with the patient intubated with an endotracheal tube (ETT) or ventilating broncho scope. ● Horizontal incision halfway between the cricoid and sternal notch; remove the fat (lipectomy). ● Dissect down to the trachea; this can be difficult to palpate because the lung apices extend further superiorly into the neck in infants and children and it can divide isthmus or retract superiorly). ● Place right and left vertical polypropylene (e.g., 4–0 Prolene) stay sutures through the tracheal rings lateral to planned tracheal incision through the second and third rings. ● You may need to mature the stoma (suture stoma skin edges to trachea), but this is usually not performed if lipectomy is adequate and the wound is not excessively deep. ● Make a vertical incision through two or three rings (the ETT is placed somewhere between tracheal rings 2 and 4); no Bjork flap, no trachea removed, taking care not to injure the cricoid. ● Withdraw the ETT or ventilating bronchoscope, and place the tracheostomy tube. ● Using a flexible fiberoptic scope, check the tube position. ● Secure the tracheostomy tube.

Answer 379

Sutures allow tracheal traction into the field for emergent reinsertion of the tracheostomy tube after accidental decannulation.

Answer 380

Decannulation

Answer 381

Anterior cricoid split. Anterior cricoid split without grafting is rarely performed today.

Answer 382

● Early: Pneumothorax. hemorrhage, accidental decannu lation, tube obstruction, subcutaneous emphysema, death ● Intermediate or late: Infection, accidental decannulation, subglottic stenosis, granulation tissue, suprastomal stenosis or collapse, difficult decannulation, death

Answer 383

Hemangioma

Answer 384

Rapid growth for the first 6 months of life, relative stability for about a year, slow involution with resolution when the child is around 3 years of age

Answer 385

PHACE (posterior fossa abnormalities and other brain anomalies; hemangioma(s) of the cervicofacial region; arterial cerebrovascular malformations; cardiac defects; eye abnormalities)

Answer 386

● Medical: Propranolol is first-line therapy; use steroids for propranolol failure ● Surgical: Tracheostomy until resolution for obstructive lesions; external surgical approaches (e.g., submucous resection and laryngotracheal reconstruciton); can con sider laser ablation

Answer 387

Laryngomalacia

Answer 388

Laryngomalacia (35 to 75%)

Answer 389

18 to 20 months (at 18 months, 75% have no stridor)

Answer 390

Difficulty feeding, failure to thrive, apnea, cyanosis, cor pulmonale, and cardiac failure

Answer 391

Gastroesophageal reflux disease, or GERD

Answer 392

Up to 17.5% will have an additional, synchronous lesion.

Answer 393

Supraglottoplasty (division of aryepiglottic folds, debulking of prolapsing arytenoid tissue, epiglottoplasty): cold steel microlaryngeal instruments, CO2 laser, and microdebrider have been reported.

Answer 394

Laryngomalacia with failure to thrive and/or respiratory distress (apneas, cyanosis, hypoxia).

Answer 395

* Transient dysphagia and aspiration (10 to 15%) * Failure or partial improvement (8.8%; MC in children with additional congenital anomalies) * Supraglottic stenosis (4%)

Answer 396

Tracheomalacia

Answer 397

Tracheomalacia is the most common congenital anomaly of the trachea; it is more often seen in premature infants and is thought to be due to tracheobronchial cartilage immaturity or irregularity. It can include true immaturity or diseases resulting in the malformation of the cartilage matrix such as polychondritis, chondromalacia, or other congenital anomalies affecting the cartilage. It can also be due to anatomical anomalies leading to insufficient cartilaginous support such as tracheoesophageal fistula.

Answer 398

Secondary (acquired) tracheomalacia can result from degeneration of normal cartilaginous support and is more common than primary tracheomalacia. It can be due to prolonged intubation, tracheostomy, recurrent tracheo bronchitis, external tracheal compression (cardiovascular abnormalities, skeletal anomalies, and space-occupying lesions).

Answer 399

● Normal: Ratio of cartilage to muscle is 4.5:1. ● Tracheomalacia: The amount of cartilage decreases, thus decreasing the ratio of cartilage to muscle. Some authorities recommend reserving the diagnosis of tra cheomalacia for patients presenting with a ratio of 2:1.

Answer 400

The major airway collapse (MAC) classification system 1. Type 1: Congenital or intrinsic tracheal ***collapse*** _without_ airway compression. Patients may have **prematurity**, **esophageal atresia**, or **TE fistula**, **mucopolysaccharidoses**, and **Larsen syndrome**. 2. Type 2: Extrinsic tracheal ***compression*** resulting in airway collapse. Patients may have cardiovascular anomalies, skeletal anomalies, or space-occupying lesions and may be primary or secondary. 3. Type 3: Secondary (**acquired**) tracheomalacia results from prolonged intubation, tracheotomy, or severe/recurrent tracheobronchitis.

Answer 401

Although most infants outgrow the symptoms of trache omalacia by 18 to 24 months of age, surgical intervention (correction of extrinsic compressive lesion, tracheostomy, aortopexy, stenting or possible tracheal grafts) may be required when conservative methods fail or the child develops life-threatening symptoms such as reflex apnea.

Answer 402

Reflex apnea

Answer 403

1. None: Involutes 2. None: Involutes 3. Carotid system 4. Aortic arch 5. Atretic or never fully develops 6. Pulmonary artery from ventral portion; dorsal portion of right arch disappears while the left dorsal arch becomes the ductus arteriosus 7. Subclavian arteries

Answer 404

● Complete: Arterial derivatives of the branchial arch system that encircle the trachea and esophagus ● Incomplete: Arterial derivatives that encircle the trachea and esophagus with and without ligaments and fibrous bands

Answer 405

The symptoms depend on the degree of compression. Biphasic or inspiratory stridor, recurrent upper respiratory infections, cough, and dysphagia. Severe symptoms include “death spells” or acute apnea and cyanotic spells, often requiring cardiopulmonary resuscitation; these can occur with tracheal secretions, a bolus of food in the esophagus, or pressure on the trachea during esophagoscopy or bronchoscopy or they may be completely asymptomatic.

Answer 406

Barium swallow ● Posterior and bilateral compression ● Right posterior and lateral compression ● None ● Anterior compression ● Posterior compression Bronchoscopy ● Anterior and bilateral compression ● Right anterior and lateral compression ● Anterior compression (left to right from inferior to superior) ● Posterior compression ● None Other imaging studies Chest CT angiography (or MRI/MRA) can assist in the final diagnosis and surgical planning.

Answer 407

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

Answer 408

Pulmonary artery sling

Answer 409

Anomalous innominate artery

Answer 410

Anomalous right subclavian artery

Answer 411

Dysphagia lusoria

Answer 412

True. Delay can increase the risk of sudden death, as well as tracheal and bronchial sequelae. Outcomes are excellent unless comorbid conditions (such as cardiac pathology) are present.

Answer 413

Dietary modification

Answer 414

Cri-du-chat syndrome (5p deletion syndrome)

Answer 415

Findings range from a normal examination (suggesting central reason to cry) to a characteristic narrow, diamond shaped larynx during inspiration, posterior commissure air leak, and flaccid epiglottis.

Answer 416

Posterior laryngeal clefts and laryngotracheoesophageal clefts

Answer 417

Symptoms may include feeding difficulty, failure to thrive, aspiration, chronic cough, stridor, recurrent pneumonia, airway obstruction, wheezing, stridor, noisy breathing, and hoarseness. Significant defects can cause severe aspiration and respiratory distress.

Answer 418

Microlaryngoscopy and bronchoscopy are performed under general anesthesia with spontaneous ventilation, including palpation of the interarytenoid space and evaluation of the interarytenoid notch, which is normally about 3 mm (a deeper notch may indicate a more incompetent larynx).

Answer 419

Tracheoesophageal fistula

Answer 420

Gastroesophageal reflux and aspiration

Answer 421

Benjamin-Inglis classification Occult cleft: Appreciated only by palpation or measurement of posterior arytenoid height. ● Type 1: Limited to supraglottic interarytenoid area ● Type 2: Partial clefting of the posterior cricoid cartilage ● Type 3: Cleft of the entire cricoid cartilage and cervical portion of the 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.

Answer 422

Meyer-Cotton classification ● LI: Interarytenoid cleft ● LII: Partial cricoid cleft ● LIII: Complete cricoid cleft ● LTEI: Into cervical esophagus ● LTEII: Into thoracic esophagus

Answer 423

1. Tracheoesophageal fistula / Esophageal atresia 2. Congenital heart disease 3. Cleft lip/palate 4. Micrognathia -\> Glossoptosis 5. Laryngomalacia 6. Opitz-Frias syndrome

Answer 424

Opitz-Frias (G syndrome)

Answer 425

Pallister-Hall (congenital hypothalamic hamarblastomas; mutation in GLI3)

Answer 426

False. Early surgical intervention has been recommended to decrease the risk of irreversible pulmonary complications associated with aspiration.

Answer 427

Open surgical approach. Anterior laryngofissure, two-layer approach, interposition grafting (SCM muscle, inferiorly-based strap musculature, tibial periosteum, auricular cartilage, temporalis fascia), or tracheoesophagoplasty have all been used.

Answer 428

Gastroesophageal reflux

Answer 429

Traumatic birth, neurologic pathology, iatrogenic, or idiopathic (most common)

Answer 430

Breathiness, hoarseness, straining, muscle tension, and soft voice

Answer 431

Arnold-Chiari malformation (or other brainstem compres sive pathologies)

Answer 432

Depends on severity, age of the patient, and the cause Conservative management, tracheostomy, injection of filler material, or thyroplasty

Answer 433

Lateralize

Answer 434

Mutational falsetto or puberphonia resulting from muscular incoordination, hyperfunction of the cricothyroid muscle, or psychological dysfunction

Answer 435

Voice therapy and/or psychotherapy. For recalcitrant dis ease, a type 3 thyroplasty can be considered.

Answer 436

Acquired subglottic stenosis (31.4%) Bilateral vocal-cord paralysis (22.2%) Congenital airway malformations (22.2%) Tumors (11.1%)

Answer 437

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

Answer 438

* Def: incomplete formation of the esophagus. * Isolated esophageal atresia is due to failure of the recanalization of the esophagus during the **8th week** of development.

Answer 439

About 85% of patients with esophageal atresia have a distal tracheoesophageal fistula. Ten percent manifest with isolated esophageal atresia and about 5% with isolated tracheoesophageal fistula

Answer 440

● EA with distal TEF (most common) ● Isolated EA ● Isolated TEF ● EA with proximal TEF ● EA with double TEF

Answer 441

● Polyhydramnios in the mother ● Inability to identify the fetal stomach bubble on a prenatal ultrasonogram

Answer 442

Found in approximately 50% of patients: ● Musculoskeletal: Hemivertebrae, radial dysplasia or ame lia, polydactyly, syndactyly, rib malformations, scoliosis, lower limb defects ● Gastrointestinal: Imperforate anus, duodenal atresia, malrotation, intestinal malformations, Meckel diverticu lum, annular pancreas ● Cardiac (most commonly associated): Ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, atrial septal defect, single umbilical artery, right-sided aortic arch ● Genitourinary: Renal agenesis or dysplasia, horseshoe kidney, polycystic kidney, ureteral and urethral malfor mations, hypospadias

Answer 443

VACTERL (10%): (V) vertebral defects, (A) anal atresia, (C) cardiac malformations, (TE) tracheoesophageal fistula with esophageal atresia, (R) renal dysplasia and (L) limb anomalies (most commonly radial anomalies)