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2 General Pediatric Otolaryngology

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Salivary Gland Masses

• Most common pediatric salivary gland mass is hemangioma.

• Most common pediatric salivary gland neoplasm is pleomorphic adenoma.

• Most common pediatric salivary gland malignancy is mucoepidermoid carcinoma.

• Overall ~50% of parotid gland neoplasms in children are malignant (vs. ~20% in adults).

Small Blue-Cell Malignancies inChildren

• Lymphoma

• Sarcoma

• PNET (neuroendocrine tumor)

• Rhabdomyosarcoma

– Most common sites (descending order)

Orbit Nasopharynx Middle ear/mastoid Sinonasal cavity

– Metastatic sites

Lung Bone Bone marrow

– Histopathology

Embryonal (75%): most common in infants and children

• Spindle-shaped cells with eosinophilic cytoplasm, best prognosis Botryoid variant

Alveolar (20%): most common in adolescents

• Small round cells separated by brous septae into alveolar groups

Pleomorphic: most common in adults

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A. F. Karas and J. W. Lee

Pediatric Base ofTongue Mass

• Differential diagnosis

– Lingual thyroid – Thyroglossal duct cyst – Vallecular cyst

• Evaluation

– Thyroid function tests: TSH, T3/T4 – CT or MRI – I-131 scan: identify other foci of functioning thyroid tissue

• Treatment of lingual thyroid: observation, thyroid suppression therapy, radioactive iodine, surgery

Lymphatic andVascular Malformations

• Infantile hemangioma (IH)

– Appear before 4weeks of age, most growth complete by 5months, majority

of regression before 4years old

– Abnormal proliferation of endothelial cells and aberrant blood vessel

architecture – Glut-1 transporter expressed; most widely used for diagnosis – Up to 50% of patients with IH have subglottic hemangioma, especially if in

“beard distribution” – Tx: Propranolol—1–3.4 mg/kg/day divided 2–3 doses. Duration usually

8–12months

• Congenital hemangioma

– Full grown at birth – Can have rapid involution and non-involuting

• Associated syndromes

– PHACE syndrome – Kasabach-Merritt syndrome – Sturge-Weber syndrome – Maffucci syndrome – von Hippel Lindau syndrome

Autosomal dominant Hemangioblastomas of CNS and retinas, renal cysts/carcinoma, pheochromocytoma, pancreatic cysts, papillary cystadenomas of epididymis Associated with endolymphatic sac tumors

2 General Pediatric Otolaryngology

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Further Reading

Darrow DH, Greene AK, Mancini AJ, Nopper AJ, etal. Diagnosis and management of infantile

hemangioma: executive summary. Pediatrics. 2015;135(4):786–91.

Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, etal. Clinical practice

guideline: tonsillectomy in children (update). Otolaryngol Head Neck Surg. 2019;160:S1–42.

Grisaru-Soen G, Komisar O, Aizenstein O, Soudack M, Schwartz D, Paret G.Retropharyngeal

and parapharyngeal abscess in children—epidemiology, clinical features and treatment. Int J Pediatr Otorhinolaryngol. 2010;74(9):1016–20.

Osowicki J, Kapur S, Phuong LK, Dobson S.The long shadow of Lemierre’s syndrome. J Infect.

2017;74:S47–53.

Peridis S, Pilgrim G, Koudoumnakis E, Athanasopoulos I, Houlakis M, Parpounas K. PFAPA

syndrome in children: a meta-analysis on surgical versus medical treatment. Int J Pediatr Otorhinolaryngol. 2010;74(11):1203–8.

Shulman ST. Pediatric autoimmune neuropsychiatric disorders associated with streptococci

(PANDAS): update. Curr Opin Pediatr. 2009;21(1):127–30.

Al-Mutairi B, Kirk V.Bacterial tracheitis in children: approach to diagnosis and treatment. Paediatr

Child Health. 2004;9(1):25–30.

Wald ER, Applegate KE, Bordley C, Darrow DH, Glode MP, Marcy SM, etal. Clinical practice

guideline for the diagnosis and management of acute bacterial sinusitis in children aged 1 to 18 years. Pediatrics. 2013;132(1):e262–80.

DeMuri GP, Wald ER.Clinical practice. Acute bacterial sinusitis in children. N Engl J Med.

2012;367(12):1128–34.

Makary CA, Ramadan HH. The role of sinus surgery in children. Laryngoscope.

2013;123(6):1348–52.

de Serres LM, Sie KC, Richardson MA.Lymphatic malformations of head and neck. A proposal

for staging. Arch Otolaryngol Head Neck Surg. 1991;117(4):416–21.

Fuchsmann C, Quintal MC, Giguere C, Ayari-Khalfallah S, Guibaud L, Powell J, etal. Propranolol

as rst-line treatment of head and neck hemangiomas. Arch Otolaryngol Head Neck Surg. 2011;137(5):471–8.

Chapter 3

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Congenital Syndromes

AnatoliF.Karas andJanetWaiminLee

Pearls

• A knowledge of embryology is essential to understanding the syndromes affecting the head and neck.

• Many congenital syndromes are associated with hearing loss, making otologic evaluation and amplication important.

• Coexistent syndromic conditions often make the prognosis for the patient more complicated, e.g., adenotonsillectomy may be less successful in treating syndromic children with sleep-disordered breathing/obstructive sleep apnea.

Pierre Robin Sequence (PRS)

• Classic triad

– Micrognathia – Glossoptosis – Airway obstruction – Cleft palate (most but not all cases)

A. F. Karas Department of Otorhinolaryngology, Head & Neck Surgery, Rush University Medical Center, Chicago, IL, USA

Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA e-mail: anatoli_f_karas@rush.edu

J. W. Lee (*) Department of Head and Neck Surgery & Communications Sciences, Duke University Medical Center, Durham, NC, USA e-mail: janet.w.lee@duke.edu

https://doi.org/10.1007/978-3-031-26048-3_3

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• Pathology: Micrognathia causes posterior displacement of the tongue and prevents descent of the tongue into the oral cavity, which in many cases prevents secondary palate fusion.

• May be isolated or syndromic. Isolated usually due to de novo mutations, but when familial usually shows autosomal dominant inheritance. PRS is associated with a genetic syndrome in ~40% of cases.

– Most commonly Stickler and velocardiofacial syndromes

• Airway interventions

– Prone positioning – Nasopharyngeal airway – Endotracheal intubation – Surgical interventions

Tongue-lip adhesion Mandibular distraction osteogenesis Tracheostomy

A. F. Karas and J. W. Lee

VACTERL Association

• Vertebral/vascular anomalies

• Anal atresia/imperforate anus

• Cardiac anomalies

• TE—tracheoesophageal stula

• Renal anomalies

• Limb anomalies (radial agenesis)

• ENT considerations: tracheomalacia, bronchomalacia

Trisomy 21 (Down Syndrome)

• Craniofacial features

– Brachycephaly, at occiput – Abnormal small ears (auricle and narrow external auditory canal [EAC]) – Upslanting palpebral ssures – Epicanthic folds – Short, small nose – Midface hypoplasia – Large ssured lips and tongue – Dental abnormalities – Short neck

3 Congenital Syndromes

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– Atlantoaxial subluxation and instability—C-spine lms and/or MRI may help

delineate if special precautions need to be taken, but all patients should be managed with as little manipulation of the cervical spine as possible.

• Complications

– Increased risk of otitis media – OSA – Subglottic stenosis

• Recommendations

– ABR by 3 months; audio every 6 months until ear-specic information

obtained; then audio every year – Baseline PSG at 4years old – PSG prior to surgical intervention for OSA including adenotonsillectomy

Autosomal Dominant (AD) Syndromes (Mnemonic: “WANTBCS”)

• Waardenburg Syndrome

– Common ndings

Pigmentary abnormalities (white forelock, heterochromia iridis) Craniofacial anomalies (dystopia canthorum, broad nasal root, synophrys) Unilateral or bilateral sensorineural hearing loss (SNHL); most common cause of AD syndromic SNHL

– Type I: with dystopia canthorum; ~20% SNHL; mutation of PAX3 gene – Type II: without dystopia canthorum; ~80% SNHL; mutation of MiTF gene

(microphthalmia transcription factor) – Type III: features of Type I plus skeletal dysplasias and muscular hypotonia – Type IV: features of Type II plus Hirschsprung megacolon (AR)

• Apert (acrocephalosyndactyly), Crouzon (craniofacial dysostosis), and Pfeiffer’s syndrome

– All due to mutation of FGFR-2 gene (10q26) – Findings common to all three syndromes

Craniosynostosis Hypertelorism Exophthalmos Midface hypoplasia Mandibular prognathism Parrot-beaked nose

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– Apert’s specic

Syndactyly (“lobster hands”) Middle and inner ear anomalies, including stapes xation Decreased cognitive function

– Crouzon’s specic

Cognitive function usually normal

– Pfeiffer’s specic

Digital broadening rather than syndactyly Associated with tracheal sleeve (complete rings) Severe developmental delay

• Neurobromatosis

– Type I (Von Recklinghausen’s disease)

Mutation on chromosome 17 Diagnostic criteria including café au lait spots, Lisch nodules, cutaneous neurobromas Acoustic neuromas in 5% (unilateral) Central nervous system (CNS) involvement may lead to SNHL, cognitive impairement, blindness

A. F. Karas and J. W. Lee

– Type II

Mutation of tumor-suppressor gene of chromosome 22 AD; 50% due to spontaneous mutation Greater CNS involvement 95% incidence of bilateral acoustic neuromas before 21years Only FDA-approved indication for auditory brainstem implant

• Treacher Collins (mandibulofacial dysostosis)

– TCOF1 gene found on chromosome 5q (TREACLE gene) – Malformation of the rst and second branchial arches – Clinical features

Otologic: malformed ossicles, auricular deformity, aural atresia, CHL present 30% of the time, occasional SNHL; 50% will have hearing impairment from EAC and/or middle ear malformations. Preauricular stulas, mandibular and mala hypoplasia, anti-mongoloid palpebral ssures, coloboma of the lower eyelids; may have cleft lip and palate and normal IQ

• Branchio-oro-renal syndrome (Melnick-Fraser syndrome)

– Involves 8q between D8S87 and D8S165 (EYA1 gene) – Clinical features

3 Congenital Syndromes

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Branchial cleft anomalies (63%): cysts or stulae Otologic malformations: hearing loss (89%), preauricular pits (77%), auricle abnormalities (41%), ossicular and cochlear malformations, lacrimal duct stenosis 2% of children with severe/profound SNHL Renal dysplasia (66%): agenesis, polycystic kidneys, duplicated ureters, renal abnormalities identiable, or intravenous pyelogram or renal ultrasound

• Stickler syndrome

– Mutation of COL2A1 gene on chromosome 12, responsible for type II col-

lagen gene – Can be associated with Pierre Robin sequence (see above) – Clinical features

Myopia with retinal detachment and cataracts Hypermobility and enlarged joints, early-onset arthritis, occasional spondyloepiphyseal dysplasia SNHL or mixed hearing loss (HL) in 80%, educationally signicant in 15%

• Achondroplasia

– Most common cause of short-limb dwarsm, normal cognitive function – Autosomal dominant, most cases spontaneous, due to mutation of FGFR-3 gene – Clinical features: short stature, short proximal limbs (rhizomelia), short n-

gers with trident hand, macrocephaly with frontal bossing, midface hypopla-

sia and depressed nasal bridge, lumbar spinal stenosis, foramen magnum

stenosis (neurosurgical consultation) – ENT considerations: obstructive sleep apnea (OSA) secondary to midface

hypoplasia and narrow nasal cavities, otologic conditions—chronic otitis

media with effusion, hearing loss (~60% conductive hearing loss [CHL])

Autosomal Recessive (AR) Syndromes (Mnemonic: “PUGJ-AR”)

• Pendred syndrome

– Second most common AR syndromic hearing loss – SNHL associated with iodine metabolism defect leading to euthyroid goiter – Associated with Mondini dysplasia and enlarged vestibular aqueduct – Historically diagnosed with perchlorate discharge test – Genetic test for pendrin gene mutation

• Usher syndrome

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– Most common AR cause of syndromic HL – Represents 10% of hereditary deafness – Clinical features: hearing loss, vestibular decits, ataxia, retinitis pigmentosa

(RP) causing visual loss (can be detected with electroretinography prior to

fundoscopic exam) – Type I: most common (90%), profound SNHL, RP by age 10, absent vestibu-

lar response – Type II: moderate/severe SNHL, RP by teens/20s, normal or slightly decreased

vestibular response – Type III: progressive HL, RP begins with puberty – Type IV: X-linked, clinically similar to type II

• Goldenhar syndrome (oculoauriculovertebral spectrum)

– Characterized by unilateral facial asymmetry, unilateral external and middle

ear changes, and vertebral malformations – Ocular ndings: upper lid colobomata – Otologic ndings: mildly deformed ear to anotia, EAC atresia, ossicular

abnormalities – Underdevelopment of the mandible, orbit, and facial muscles; also may have

hemivertebrae of ventral column – Hemifacial microsomia often placed in this category; possible vascular insult

rather than genetic cause – Most cases sporadic, some autosomal dominant transmission reported

A. F. Karas and J. W. Lee

• Jervell-Lange-Nielsen syndrome

– Profound bilateral SNHL – Cardiac defects: prolonged QT interval, large T waves, Stokes-Adams attacks – Recurrent syncopal episodes; may lead to sudden cardiac death – Treat with beta-blockade

X-linked Syndromes

• Alport syndrome

– X-lined and AR subtypes – Progressive SNHL and varying degrees of renal disease – Defect in renal basement membrane and stria vascularis

• Norrie syndrome

– Caused by mutations in the NDP gene, located on Xp11.4 – Primarily affects the eye, leads often to blindness – 30–50% developmental delay or mental retardation – Early-onset SNHL common

3 Congenital Syndromes

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• Otopalatodigital syndrome

– Craniofacial anomalies – Widely spaced rst and second toes – Conductive hearing loss due to ossicular malformation

• Wildervank (cervico-oculo-acoustic) syndrome

– X-linked dominant; fatal in males, so only seen in females – Klippel-Feil malformation (congenitally fused segment of cervical spine) – SNHL or mixed HL – CN VI paralysis

22q Deletion Syndromes

• Velocardiofacial syndrome

– AD, characterized by abnormal facies, VPI, and cardiac anomalies – Deletion of 22q11 – Almond-shaped palpebral ssures, decient nasal alae, tubular nose with bul-

bous tip, small mouth – Long face with vertical maxillary excess, malar attening, mandibular

retrusion – Palatal clefting ranging from submucous cleft to overt wide cleft palate with

hypernasality – Cardiac anomalies in 80%, most commonly ventricular septal defect (VSD);

other anomalies include right-sided aortic arch, tetralogy of Fallot, aortic

valve disease – Medial displacement of internal carotid arteries present in up to 25% of

patients

• DiGeorge syndrome

– CATCH-22

Cardiac anomalies (tetralogy of Fallot) Abnormal facies Thymic aplasia Cleft palate Hypocalcemia/hypoparathyroidism

– Improper development of third and fourth branchial arches

Thymic aplasia—T-cell qualitative immunodeciency

– Laryngeal ndings—anterior glottic web, patient may present with hoarse-

ness alone or with other respiratory complaints

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