Pediatrics Flashcards
Pediatric Eustachian tube
Shorter length, less acute angle of orientation compared to adults. About 50% of adult length at birth.
- Allows micro-organisms from nasopharynx to gain access to middle ear space
- Tensor veli palatini develops with time to open tubal lumen more efficiently
Congenital membranous malformations of the inner ear
- Bony labyrinth is unaffected and CT of the inner ear is normal.
- Scheibe aplasia or cocheosaccular dysplasia is most common membranous malformation
- Complete membranous labyrinthine dysplasia (rare) associated with Jervell and Lange-Nielsen and Usher syndromes
- Alexander dysplasia: cochlear basal turn dysplasia; high frequency SNHL
Michel aplasia
Absence of the cochlea and labyrinth; cessation of the otic capsule at the third week of development
Mondini malformation (incomplete partition malformation)
- A cochlea with 1.5 turns with cystic middle and apical turns (absent interscalar septum)
- Most common cochlear malformation
- Associated with enlarged vestibular aqueduct
- Can be seen in Pendred syndrome
- Predisposition to meningitis
- Variable degrees of SNHL
Visual reinforcement audiometry
Child must be at least 6 months correct age and must be able to see visual stimuli about 3 feet away
Conditioned play audiometry
Children 2-2.5years
- Child responds to auditory stimulus with a conditioned play paradigm (drop a block in a bucket when they hear a sound)
Standard audiometry
Child must be 4-5 years or older
Three most common branchial anomalies in order of frequency
- 70-95%: second branchial arch anomalies
- 8-10%: first branchial arch anomalies
- 3-10%: third and fourth branchial arch anomalies
What branchial cleft anomaly involves the facial nerve?
First branchial cleft anomaly tracts are close to the parotid (particularly superficial lobe). The tract may pass above, between or below the branches of the facial nerve.
Second branchial arch structure that normally regresses during development but may be associated with hearing loss and pulsatile tinnitus in the adolescent or adult?
Stapedial artery
First branchial arch derivatives
Cranial nerve: V3
Muscular contributions: muscles of mastication (temporalis, masseter, pterygoids), mylohyoid, anterior belly of digastric, tensor veli palatini, tensor tympani
Arteries: maxillary, external carotid
Skeletal elements: meckel cartilage: mandible, malleus head and neck, incus body and short process, anterior malleolar ligament, premaxilla, sphenomandibular ligament, maxilla, zygoma, parts of the temporal bone
Second branchial arch derivatives
Cranial nerve: VII
Muscular contributions: muscles of facial expression, posterior belly of digastric, stylohyoid, stapedius
Arteries: stapedial (normally regresses)
Skeletal elements: Reichert cartilage: manibrium of malleus, long and lenticular process of incus, stapes suprastructure, styloid process, stylohyoid ligament, lesser horns of hyoid, upper body of hyoid
Third branchial arch derivatives
Cranial nerve: IX
Muscular contributions: stylopharyngeus, superior and middle constrictors
Arteries: Common and internal carotid
Skeletal elements: greater horns and lower body of hyoid
Fourth branchial arch derivatives
Cranial nerve: X (superior larngeal)
Muscular contributions: Cricothyoid, intrinsic muscles of soft palate including levator veli palatini
Arteries: aortic arch, right subclavian, branchiocephalic
Skeletal elements: thyroid, cuneiform cartilages
Sixth branchial arch derivatives
Cranial nerve: X (recurrent)
Muscular contributions: Intrinsic muscles of larynx (except cricothyroid)
Arteries: ductus arteriosus, pulmonary artery on right
Skeletal elements: cricoid, arytenoid, corniculate cartilages
Where is the proximal opening of a second branchial cleft anomaly?
Tonsillar fossa (may enter the pharynx close to the middle constrictor)
Symptoms associated with persistent stapedial artery
Pulsatile tinnitus, asymptomatic incidental finding, conductive hearing loss, SNHL, erosion of otic capsule (rare), may be associated with additional vascular anomalies
Pathway of third branchial arch anomaly
Piriform sinus of the hypopharyx -> through the inferior constrictor muscle medially and through thyrohyoid membrane -> greater cornu of the hyoid bone, lateral to the SLN -> over the hypoglossal nerve (superficial to) -> inferior to the glossopharyngeal nerve ( deep to)-> posterior to ICA ->fistula opens to the skin over the anterior border of the SCM
Pathway of fourth branchial arch anomaly
Piriform sinus of the hypopharynx -> medial to the SLN-> tracheoesophageal groove, parallel to RLN into mediastinum -> under aortic arch (left) or subclavian (right) -> ascends along posterior surface of common carotid (deep to) ->anterior border of SCM
It can also follow the common carotid to the bifurcation-> between the ECA and ICA -> below glossopharyngeal -> above hypoglossal-> descends inferiorly to exit anterior to SCM
Pathway of second branchial arch anomaly
Tonsillar fossa -> lateral to glossopharyngeal (superficial to CN XI and XII)-> between ICA and ECA -> under hypoglossal -> anterior border of SCM
Clinical presentations of third and fourth branchial cleft anomalies?
Both may be noted as soft fluctuant mass, abscess or draining tract located along anterior border of SCM. Acute suppurative thyroiditis can be seen. Stridor may be present.
Typical findings in a patient with branchio-otorenal syndrome
- Autosomal dominant syndrome
- Malformed external ears, also middle and inner ear anomalies
- Preauricular pits
- Conductive, sensorineural or mixed hearing loss
- Renal anomalies ranging from mild hypoplasia to complete agenesis
- Individuals with ear pits and branchial defects warrant a renal ultrasound
- Mutations in the EYA1 gene
At which cervical vertebral level is the cricoid cartilage in an infant located and how does it change as the child grows?
C4 and the cricoid descends to C7
Why is the thyroid notch not a palpable landmark for tracheotomy in infants?
Infants have a shortened thyrohyoid membrane so the hyoid bone is located anterior to the thryoid notch, obscuring the thryoid notch as a landmark for tracheostomy
Diameter of the subglottis in a full term infant
5-7mm (<4mm indicates subglottic stenosis)
Dimension of the trachea in a full term infant
4cm long x 6mm wide
Ratio of cartilaginous to membranous trachea in an infant
4.5:1
What additional anomaly should be looked for in a patient with a complete vascular ring?
Vascular sling
What is the first paranasal sinus to develop embryologically?
Maxillary sinuses begin developing at 3 weeks of fetal life and are partially pneumatized at birth. Reach full size by age 16
Which sinuses are the last to pneumatize?
Frontals - earliest pneumatization occurs at or shortly after 2 years of age
When do inner ear structures reach full adult size?
They begin developing at 4 weeks gestation and reach adult size by 6 months gestation
What age would you expect inner ear malformation to develop in a fetus?
4-13 weeks (first trimester)
When does the auricle achieve adult form?
18 weeks gestation. However, it continues to grow in childhood with changes continuing into late adult life. Adult width and length are achieved at different times. Width: age 6 years in females and 7 yrs in males. Length: 12 in females and 13yrs in males. 90% of adult size is reached by age 5-8
Orbital size is what percentage of the adult size at birth?
60-65%. This is also the case for the length and width of the cranium. The optic nerve and eye are extensions of the brain and follow brain growth (reaches adult size by 2-3 years) rather than growth of the facial skeleton.
CHARGE
C - coloboma H - heart defect A - Atresia, choana R - Retarded growth and development G - Genital hypoplasia E - Ear anomalies/hearing loss (Mondini malformation)
Poor prognostic factors in patients with CHARGE
midline malformations, esophageal atresia, bilateral choanal atresia
Gene involved in CHARGE
CHD7 gene (member of chromodomain helicase DNA protein family), chromosome 8q12 in 5% of patients with CHARGE
Head and neck anomalies related to CHARGE
Choanal atresia, ear abnormalities, hearing loss, facial nerve palsy, pharyngoesophageal dysmotility, laryngomalacia, VF paralysis, OSA, tracheoesophageal fistula, GERD, T bone abnormalities
Incidence of choanal atresia in patients with CHARGE
> 65%, >2/3 bilateral. If unilateral left > right
VACTERL
V - Vertebral defects
A - Anal atresia
C - Cardiac malformations
TE - Tracheoesophageal fistula with esophageal atresia
R - Renal dysplasia
L - Limb anomalies (commonly radial anomalies)
What percentage of patients with VACTERL have TE fistula?
50-80%
Major clinical characteristics in patients with velocaridofacial syndrome?
Clefting of the secondary palate, hypernasal speech, pharyngeal hypotonia, structural heart anomalies, dysmorphic facial appearance, slender hands and fingers, learning disabilities, medialized internal carotid arteries may be present (requires contrast imaging before pharyngeal surgery)
What chromosomal anomaly is associated with velocardiofacial syndrome?
80-100% have hemizygous deletion of chromosome 22q11
Autosomal dominant but most patients present denovo
Factors that lead to velopharyngeal insufficiency in patients with velocardiofacial syndrome?
Cleft palate, hypotonia of the pharyngeal muscles, platybasia (an obtuse angulation of the cranial base), small adenoid pad
Clinical features of Stickler syndrome
Micrognathia leading to Pierre Robin sequence, hypermobility, enlargement of joints associated with onset of arthritis in early adulthood, myopia, retinal detachment, cataracts and hearing loss (SNHL, conductive or mixed)
Genetic mutation in Stickler syndrome
COL2A1, COL9A1, and COL11A2. These genes are involved in the production of type II, type IX and XI collagen, which are components of vitreous, cartilage and other connective tissue.
Different types of Stickler syndrome
Type I: autosomal dominant, mutations in the COL2A1 gene are most common
Type 2: Autosomal dominant, mutations in COL11A1
Type 3: Autosomal dominant, no ocular abnormalities because COLIIA2 which is the mutation is not present in vitreous
Type 4: Autosomal recessive, mutations in COL29A1
Clinical findings in Pierre Robin sequence
Micrognathia, glossoptosis, wide U shaped cleft palate, leading to upper airway obstruction and feeding difficulties
Embryology of Pierre Robin sequence
Arrest in mandibular development at 7-11 weeks of gestation (micrognathia) causes tongue to set abnormally high and posteriorly in the oral cavity (glossoptosis). This prevents fusion of the palatal shelves at 11 weeks and results in U shaped cleft palate
Most common syndromes associated with Pierre Robin
- Stickler syndrome
- Treacher Collins
- Velocardiofacial syndrome
- Fetal alcohol syndrome
- Mobius syndrome
- Nager syndrome
- Beckwith Wiedemann syndrome
How often is Pierre Robin associated with a syndrome
80%
Causes of acute suppurative sialadenitis in premature neonates
- Reduction in salivary flow
- Immunologic immaturity
- Presence of bacteria in oral cavity of neonates
- Dehydration
- Prolonged orogastric feeding
- Congenital anomalies of the floor of mouth
Treatment for acute suppurative sialadenitis in premature neonates
Hydration and antimicrobial therapy should lead to response within 48-72 hours. Gland manipulation should be avoided in preterm children to reduce the risk of systemic septicemia. If no satisfactory improvement then I&D
Causes of pediatric viral sialadenitis
EBV, parainfluenza, adenovirus, HHV-6, HIV, coxsackivirus, mumps, influenza
What organ systems are involved in patients with mumps
Parotid, submandibular glands (diffuse tender enlargement), gonads, pancreas, meninges
Classic triad of symptoms seen with infectious mono
80% have fever, sore throat and posterior cervical adenopathy that can involve the periparotid or perifacial (submandibular) lymph nodes with subsequent involvement of adjacent glands
HIV associated benign lymphoepithelial cysts
Occur in up to 10% of HIV positive children, often early in course of HIV infection with slowly progressive asymptomatic parotid gland enlargement and often associated with cervical lymphadenopathy. Cysts are usually bilateral (80%), multiple (up to 90%) and involve the superficial lobe of parotid.
Most common pathologies causing granulomatous inflammation of major salivary glands?
Actinomycosis, tuberculosis, atypical mycobacterial infections, sarcoidosis
What bacteria are associated with non TB mycobacterial infections of the salivary glands?
Mycobacterium avium intracellulare (70-90%), M. bovis, M. kansaii, M. scrofulaceum
Heerfordt syndrome
Uveoparotid fever - uveitis, parotid enlargement, facial paralysis.
Symptoms include fever, malaise, weakness, nausea, night sweats. Evaluation includes CXR looking for hilar adenopathy and an acetylcholinesterase level. Biopsy of lip or tail of parotid may confirm diagnosis
Juvenile recurrent parotisis
- Characterized by recurrent episodes of nonobstructive, nonsuppurative unilateral (60%) or bilateral (40%) parotid inflammation
- Peak incidence between ages 3-6 with male predominance. Diagnosis made on clinical basis and confirmed with US or sialography which shows pathognomonic sialectasis (intraductal cystlike dilation).
Most common benign pediatric tumors of the parotid gland
Parotid gland hemangiomas (50%)
Discuss development and natural history of pediatric parotid gland hemangiomas
May be part of segmental V3 hemangioma or they may be isolated focal hemangiomas. They occur at birth or shortly thereafter and act like other hemangiomas, undergoing rapid proliferative phase followed by involution
First line treatment for parotid hemangiomas
Oral propranolol
Two most common maxillofacial fractures in children
Nasal bone and mandibular fractures
Why do infants diagnosed with obstructive septal deviation after nasal trauma require urgent evaluation?
They are obligate nasal breathers
When should pediatric nasal fractures be reduced?
Reduction should be done either within 3-6 hours of injury, before the onset of swelling or 3-10 days after the injury. If reduction cannot happen immediately than evaluate 3-7 days after injury when edema has subsided
Ddx for congenital midline mass
- Dermoid (most common)
- Glioma
- Encephalocele
- Epidermoid cysts
- Hemangioma
- Teratoma
- Neurofibroma
- Lipoma
- Lymphangioma
Nasal dermoid
Midline nasal epithelial lined cyst, sinus or tract that forms as result of regression of the embryologic neuroectrodermal tract pulling skin elements into the prenasal space. It contains keratin debris, hair follicles, sebaceous glands and sweat glands.
Clinical findings in a patient with a nasal dermoid cyst
- More often in males than females
- Noncompressible mass
- Furstenberg sign is negative (no enlargement with compression of jugular veins)
- Firm and nontender, solitary and rubbery
- Does not transilluminate
- Midline, commonly along dorsum which may be widened
- Can be intranasal, extranasal or intracranial
- May have sinus opening with intermittent discharge
- Hair protruding through punctum is pathognomonic but not commonly seen
How often do nasal dermoids extend intracranially?
~25% of cases. They most often communicate through the foramen cecum or cribiform plate to the base of the frontal fossa with extradural adherence to the falx cerebri and are associated with an increased risk of meningitis
What radiographic findings suggest a nasal dermoid with intracranial extension?
- Bifid crista galli
- Enlarged foramen cecum (defect in the anterior skull base at the apex of the prenasal space that normally closes after a dural diverticulum retracts from the prenasal space into the cranium)
Nasal glioma
Congenital nasal anomaly consisting of ectopic glial tissue that lacks a patent CSF communication to the subarachnoid space but in 15-20% maintains a fibrous affiliation
How do nasal gliomas form?
Theories:
- Abnormal closure of fronticulus frontalis isolating brain tissue from intracranial cavity
- Nidus of ectopic neuroepithelia
- An outgrowth of olfactory tissue through the cribiform plate
Clinical presentation of nasal gliomas?
Extracranial (60%): smooth, firm, noncompressible masses that occur most commonly at the glabella although may arise along side of nose or nasomaxillary suture line
Intranasal (30%): polypoid pale masses that arise from the lateral nasal wall near the middle turbinate and occasionally from the nasal septum and can protrude from the nostril
Combined (10%)
Intracranial extension (15%)
Negative furstenberg
what congenital nasal anomaly consists of an extracranial herniation of the cranial contents through a defect in the skull? Meninges only? Brain matter and meninges?
Encephalocele, meningocele, meningoencephalocele respectively
How are nasal encephaloceles classified?
Location of the skull base defect:
- Sincipital (60%): arise between the frontal and ethmoid bones at the foramen cecum, immediately anterior to the cribiform plate
- Basal (40%): Arise between the cribiform plate and the superior orbital fissure or posterior clinoid fissure.
Most common congenital encephaloceles are occipital (75%)
Subtypes of sinciptial encephaloceles
- Nasofrontal: defect is located at the glabella between the nasal and frontal bones. Causes telecanthus and inferior displacement of nasal bones.
- Nasoethmoidal: sax exits through the foramen cecum, passing under the nasal bones and above the upper lateral cartilages, creating a lateral nasal mass. Results in superior displacement of nasal bones and inferior displacement of alar cartilages
- Nasoorbital: sac traverses the foramen cecum before extending into the orbit via a defect in its medial wall
Subtypes of basal encephaloceles?
- Transethmoidal: most common, unilateral nasal mass or hypertelorism
- Sphenoethmoidal
- Transsphenoidal: associated with cleft palate
- Sphenoorbital: unilateral exophthalmos or diplopia
Common clinical findings associated with encephaloceles?
- Bluish/red mass that is soft and compressible
- Positive Furstenburg test (expands with compression of IJ)
- Pulsatile
- Does transilluminate
What imaging is best for diagnosis and surgical planning of encephalocele?
CT and MRI
Four hypotheses to explain development of choanal atresia
- Buccopharyngeal membrane persistence
- Abnormal neural crest cell migration
- Bucconasal membrane persistence
- Adehesion formation in the nasochoanal region as a result of abdnormal mesoderm
Clinical features of choanal atresia
- 1:5000-8000 live births
- 75% unilateral, right> L
- 2:1 female to male
- 50% with unilateral atresia and up to 75% with bilateral have other associated congenital anomalies
- Bony 30%, membranous 70%
Anatomic features of choanal atresia
- Narrow nasal cavity
- Lateral bony obstruction by the pterygoid plates
- Medial obstruction caused by thickening of the vomer
- Membranous or bony obstruction
What syndromes are associated with choanal atresia?
- CHARGE
- FGFR related craniosynostosis syndromes (Crouzon, Pfeiffer, Apert, Jackson Weiss, Muenke, Antley Bixler0)
- Down syndrome
- Treacher Collins
- Solitary medianmaxillary central incisor
At what age are most infants no longer obligate nasal breathers?
6-9 months
Definitive diagnosis for choanal atresia
CT scan
What symptoms might suggest congenital nasal pyriform aperture stenosis
Respiratory distress, poor feeding, failure to thrive, recurrent cycles of cyanosis and apnea
What causes congenital nasal pyriform aperture stenosis?
Bony overgrowth of medial nasal process of the maxilla into the nasal aperture resulting in a pyriform aperture smaller than 11mm
Congenital anomalies associated with congenital nasal pyriform aperture stenosis
- holoprosencephaly
- solitary median maxillary central incisor syndrome
Syndromes associated with congenital anosmia
- Kallmann syndrome
- Congenital insensitivity to pain
- Ciliopathies including Bardet-Biedle syndrome and Leber congenital amaurosis
Most common site of obstruction causing nasolacrimal duct cysts (dacrocystoceles)?
Inferior meatus (membrane of Hasner)
Recanalization of the nasolacrimal duct occurs from the lacrimal system inferiorly
Symptoms associated with dacrocystoceles?
Epiphora (tearing), nasal obstruction, respiratory distress in neonates (obligate nasal breathers), aspiration, feeding difficulties
First line therapy for nasolacrimal duct cyst
Massage
Surgical treatment of nasolacrimal duct cyst
Endoscopic marsupialization (opening the cyst into the inferior meatus). Ophthalmology may place stents.
Rathke cleft/pouch cyst
A non-neoplastic sellar/suprasellar epithelial lined cyst. Form during embryological development from a developmental precursor of the pituitary gland called the Rathke’s pouch. During week 4 a pouch forms along dorsal stomodeum. During week 5, the infundibular stalk and this pouch come into contant and the opening of the pouch is occluded at the buccopharyngeal junction and is separated from the oral cavity by week 6. The pituitary gland develops from anterior wall of the pouch (pars distalis) and a small portion of the posterior wall of the pouch (pars intermedia). Normally the remnant pouch lumen is obliterated.
How do Rathke pouch cysts commonly manifest?
During 5th or 6th decade with female predominance. Usually asymptomatic but large lesions can cause visual disturbances, pituitary dysfunction and or headaches. Can be seen on MRI.
Tumor derived from Rathke pouch
Craniopharyngioma
Thornwaldt cyst
Benign cyst/bursa that forms in the cleavage plane between the nasal cavity and the pharynx as a result of obstruction, inflammation or infection of the pharyngeal bursa. Formed by a communication between the notochord and the nasopharyngeal endoderm
Predominant pathogens in acute pediatric sinusitis
Strep pneumoniae (25-30%) Haemophilus influenzae (15-20%) Moraxella catarrhalis (15-20%)
What three risk factors are likely to increase the resistance of organisms to amoxicillin in both acute bacterial sinusitis and acute otitis media in a child?
- Day care or child care attendance
- Antibiotic treatment within previous 30 days
- Age < 2
Diagnostic criteria for pediatric chronic sinusitis
- One or more symptoms of sinusitis >12 weeks
- Six or more episodes of acute sinusitis a year
- Acute exacerbations without complete resolution between episodes
What primary immunodeficiencies are associated with chronic sinusitis
- Common variable immunodeficiency
- Immunoglobulin (IgA) deficiency
- IgG subclass deficiencies, commonly IgG3 deficiency (important for defense against Moraxella catarrhalis and Strep pyogenes)
Ddx for congenital neck mass
Lateral neck masses: - Branchial anomaly - Laryngocele - Thymic cyst - Pseudotumor of infancy - lymphadenopathy - fibromatosis coli Midline neck masses: - Thyroglossal duct cyst - Dermoid cyst - Plunging ranula - Teratoma - Thyroid mass - Lymphadenopathy Entire neck: - Hemangioma - Lymphatic malformation
Cause of thyroglossal duct cysts
Persistent epithelial tract during descent of thyroid from the foramen cecum in the base of the tongue to its final position in the anterior neck. Rarely undergo neoplastic transformation (1%)
Evaluation of a child for a suspected thyroglossal duct cyst
Ultrasound: median ectopic thyroid tissue would appear solid on unltrasound
Thyroid function tests: Patients with median ectopic thyroid tissue are frequently hypothyroid with elevated TSH and resultant hypertrophy of the ectopic thyroid tissue
Thyroid scintiscan: If the above tests indicate presence of median ectopic thyroid this is done to determine where there is function thyroid tissue in the cyst and elsewhere
Clinical presentation of a cervical thymic cyst
Most occur in the first decade of life as a lateral neck mass, anterior to SCM, most commonly to the left. 80-90% are asymptomatic. They may enlarge do to hemorrhage or infection and can cause dysphagia, pain, dysphonia and dyspnea. Are known to expand with Valsalva.
Possible causes of cervical thymic cysts?
- Incomplete descent of thymus into chest
- Sequestration of thymic tissue foci along descent path into chest
- Failure of thymophayngeal duct to involute
Difference between congenital and acquired thymic cysts
Congenital: Usually unilobular and originate from persistent rudiments of the thymopharyngeal duct. They may have epithelium derived from the thyroid and parathyroid glands because of their close association during development
Acquired: Cysts are multilobular and develop from degenerated Hassal corpuscles (degenerated epithelial cells) . Associated with Sjogren syndrome, aplastic anemia, and AIDS
What congenital neck mass is a germ cell tumor made up of ectodermal and mesodermal elements but has no endodermal elements
A dermoid cysts - can contain hair follicles, smooth muscle, fibroadipose and sebaceous glands. Presents as firm, lobulated noncompressible mass.
Where do dermoid cysts form?
Along lines of embryonic fusion
- Most common locations in the head and neck include anterior fontanelle, bregma, upper lateral forehead, upper lateral eyelid, submental region
Categorization of head and neck dermoid cysts
Periorbital: most common in head and neck; develop along naso-optic groove between the maxillary and mandibular processes
Nasal dorsum: develop during ossification of the frontonasal plate
Submentum/floor of mouth: region of fusion of the first and second branchial arches in the midline, most common location in the neck
Suprasternal, thyroidal and suboccipital regions
How can dermoid cysts be differentiated from thyroglossal duct cysts on exam?
Both commonly present as painless midline neck masses. Dermoid cysts do not move with tongue protrusion or swallowing. Infection of dermoid cysts is also rare because they have no communication with the oropharynx
What congenital anomaly arises from embryonic germinal epithelium of all three types: ectoderm, mesoderm, endoderm?
Teratoma
What prenatal finding may indicate a cervical teratoma?
Maternal polyhydramnios: often diagnoses during prenatal or early neonatal period
Where do teratomas occur within the head and neck?
Neck is most common, nasopharynx, oropharynx, oral cavity
EXIT procedure
Ex utero intrapartum treatment procedure - technique used to establish an airway in neonates with airway compression from congenital anomalies diagnosed prenatally. Involves establishing an airway while fetoplacental circulation is preserved.
Internal vs external laryngocele
Internal: dilation lies within the limits of the thyroid cartilage and is seen as cystic swelling of the AE fold
External: Dilation extends beyond thyroid cartilage in a cephalad direction to protrude through thyrohyoid membrane
Combination: can have components of both
Pseudotumor of infancy
Benign congenital neck mass that presents as a firm round, nontender mass at the junction of the upper and middle third of the SCM that typically presents 2-3 weeks after birth.
Also called SCM tumor of infnacy, fibromatosis coli, congenital muscular torticollis
What is the natural history of pseudotumor of infancy?
It is present 2-3 weeks after birth, slowly increases in size for 2-3 months and then slowly regresses for 4-8 months. 80-100% complete resolve by 12 months. Some benefit from PT
How do vascular malformations differ clinically from hemangiomas?
Hemangiomas are typically absent at birth, appear during infancy, undergo rapid growth within the first year of life and then undergo a variable period of involution.
Most vascular malformations are present at birth, demonstrate growth parallel to the child’s development and do not involute over time. Sudden enlargement can be seen with infection, trauma or adolescence.
How are vascular malformations classified?
Low flow- capillary malformations, venous malformations, lymphatic malformations and combined type
High flow: arterial malformations and arteriovenous malformations
Capillary malformation
Located in the cutaneous superficial vascular plexus, made up of capillary and postcapillary venules. Grows with the individual typically becoming darker, nodular and occasionally leading to hypertrophy of the underlying soft and hard tissues. Rarely involute
AKA port wine stain commonly associated with Sturge Weber syndrome
Sturge Weber Syndrome
Triad of facial dermal capillary malformations, ipsilateral central nervous system vascular malformation (leptomeningeal angiomatosis) and vascular malformation of the choroid in the eye associated with glaucoma
- Presents as port wine stain of upper face and eyelid
- Requires brain MRI and ophthalmology evaluation
- Associated with seizures, developmental delay and focal neurologic deficits
Where do venous malformations commonly occur in the head and neck?
Lips and cheek. Intraossous venous malformations (“soap bubble” on radiographs) can occur in the mandible, maxilla, zygoma, calvarium
How do lymphatic malformations in the head and neck manifest?
About 90% are diagnosed before age of 2. Often appear as intraoral mass or neck mass that is nontender and may cause functional concerns such as difficult with speech or swallowing or respiratory concnerns. They can enlarge rapidly after infection or trauma due to bleeding or swelling and may be diagnosed in utero with prenatal screening.
Classification of lymphatic malformations
Macrocystic: single or multiple cysts at least 2cm large
Microcystic: cysts smaller than 2cm
Mixed: at least 50% macrocystic component
- Infrahyoid vs suprahyoid and unilateral vs bilateral
Relationship between type of lymphatic malformation and anatomical location
- Facial lymphatic malformations lateral to the lateral canthal line tend to be macrocystic where as medial midfacial lesions tend to be more mixed
- Midface involvement is uncommon and usually is completely microcystic
- Neck lymphatic malformations are divided into infrahyoid and suprahyoid
- Infrahyoid disease is generally macrocystic and suprahyoid is more likely to be microcystic
Presentation of AVM
Usually present at birth and expand with trauma or hormonal changes. Often warm and red or blue with an audible bruit and palpable thrill.
Imaging characteristics of AVMs
- MRI: no enhancement on T2 weighted images and flow voids on both T1 and T2 weighted
- Angiography: dilation and lengthening of arteries and early shunting of enlarged veins
- CT: skeletal involvement
Two main types of hemangiomas of infancy
Focal: more common; a tumor like growth pattern
Segmental: less common; diffuse, plaque like lesion
Phases of hemangiomas of infancy
- Proliferative phase: rapid growth from 2weeks to 1 year. Usually absent at birth but appears during infancy
- Involuting: slow regression from 1 - 7 years
- Involuted: complete regression by 8 years of age
What vascular tumors reach maximal size at birth and do not enter into a rapid postnatal growth phase?
Congenital hemangiomas
Two types of congenital hemangiomas
Rapidly involuting congenital hemangioma (RICH) - show accelerated regression typically by 1 year of age
Noninvoluting congenital hemangioma (NICH) - do not enter an involuting phase
How to differentiate congenital hemangiomas from hemangiomas of infancy
Infantile hemangiomas stain positive for GLUT1 and Lewis Y whereas congenital hemangiomas do not. Placental microvasculature also stains positive for these markers.
PHACE/PHACES Syndrome
PHACE describes the association of facial segmental hemangiomas of infancy with one or more of the following anomalies:
P - posterior fossa brain malformations
H - hemangioma, covering >5cm of the head/neck
A - arterial anomalies
C - cardiovascular anomalies
E - eye anomalies
PHACES refers to the presence of ventral developmental defects, specifically sternal defects and or supraumbilical raphe
Embryology of EAC and middle ear structures
EAC: first branchial grooze
Eustachian tube, middle ear, mastoid air cells: first branchial pouch
Malleus head, incus short process and body: first branchial arch
Malleus manubrium, incus long process, stapes suprastructure: second branchial artch
Stapes footplate: otic capsule
What syndromes are most commonly associated with auricular deformities?
- BOR syndrome
- Nager syndrome
- Treacher Collins
- DiGeorge
- CHARGE
Microtia
- Unilateral:bilateral = 4:1
- right ear: left ear = 3:2
- Male > female
- 55-93% associated with EAC atresia or stenosis
- 50% associated with congenital syndrome
Marx microtia classification system
Grade 1: smaller than normal auricle with mild deformity but all parts of ear can be distinguished
Grade 2: Abnormally small auricle with only partial helical structure preserved
Grade 3: Severe deformity with mostly skin only lobular remnant
Grade IV: anotia
Three types of cup ear deformities
Type I: upper portion of the helix cupped, hypertrophic concha, reduced auricular height
Type II: More severe lopping of the upper pole of the ear
Type III: Severe cup ear deformity, malformed in all dimensions
Types I and II are considered first degree dysplasia and type III is classified as third degree dysplasia
Describe the traditional stages of rib cartilage graft microtia repair?
Separated by 2-3 months, starting around 6 years of age
Stage 1: auricular reconstruction (creation of a cartilaginous framework with autogenous rib cartilage)
Stage 2: lobule transposition
Stage 3: atresia repair
Stage 4: construction of tragus
Stage 5: auricular elevation
Complications associated with microtia repair
- Pulmonary complications from rib harvest (atelectasis, pneumothorax, pneumomediastinum, pneumonia)
- Skin necrosis overlying cartilagenous framework
- Chondritis
- Reabsorption
- Malposition of auricular implant
- Tissue breakdown of skin graft
- Keloiding
Common otoplasty techniques
- Mustarde (recreates antihelical fold) or Frunas (decreases conchomastoid angle) are most common
What complication of otoplasty can be caused by too much flexion of the antihelix at a level equal to the midportion of the ear and inadequate flexion at the superior and inferior poles?
Telephone ear deformity
Can be prevented by repeatedly checking the tension on all sutures during surgery
Weerda classification for EAC malformations
Type A: marked narrowing of the EAC with intact skin layer
Type B: partial development of EAC with medial atretic plate
Type C: complete bony EAC atresia
Minor and major malformations in congenital aural atresia
Minor: normal mastoid pneumatization, normal oval window footplate, favorable facial nerve footplate relationship, normal inner ear
Major: poor mastoid pneumatization, abnormality or absence of oval window/footplate, abnormal course of facial nerve, abnormalities of inner ear
What is involved in preoperative planning for repair of congenital aural atresia?
Audiometric evidence of cochlear function - ideally ABR done within first few days of life
Radiographic evaluation of temporal bone can be deferred until 5-6 years of age
How often is congenital cholesteatoma present with congenital atresia
15% of cases
Critical elements to review of T bone scan that will predict prognosis in congenital aural atresia repair?
Status of inner ear, extent of temporal bone pneumatization, course of facial nerve, presence of the oval window and stapes footplate
Two basic approaches for repair of congenital aural atresia?
Anterior approach: drilling area defined by TMJ anteriorly, middle cranial fossa dura superiorly, and mastoid air cells posteriorly
Mastoid approach: sinodural angle first identified followed to the antrum. Facial recess is opened and incudostapedial joint separated. Atretic bone is then removed
What congenital syndrome has a wide range of clinical manifestations with the typical presentation involving epibulbar dermoids or lipodermoids, microtia, mandibular hypoplasia, coloboma, hemifacial microsomia and vertebral anomalies?
Goldenhar syndrome (oculoauriculovertebral dysplasia)
What external ear anomalies are associated with Goldenhar syndrome?
- Preauricular appendages and fistulae
- Anomalies of the auricle
- Atresia of the EAC
- Microtia or anotia
TORCH organisms
Toxoplasmosis Other infections: syphilis, coxsakievirus, VZV, HIV, parvovirus, Rubella CMV Herpes
Hearing loss associated with congenital CMV
Can cause SNHL in as many as 50% of children with symptomatic infections and up to 12% of infants with asymptomatic infections. As many as 50% of SNHL cases due to CMV may have a late onset during preschool or early school years
What inner ear structures are affected by CMV?
Cytomegalic inclusion bodies have been seen in superficial cell of the stria vascularis, Reissner membrane, limbus spiralis, saccule, utricle and semicricular canals
Symptomatic vs asymptomatic congenital rubella infection
Symptomatic: occurs in first trimester of pregancy producing hearing loss in 50% of patients. Can also cause cardiac malformations, visual loss, osteitis, motor deficits, thrombocytopenic purpura, hepatosplenomegaly, icterus, anemia, low birth weight, cerebral damage
Asymptomatic: occurs during 2nd or 3rd trimester of pregnancy and is silent at birth. Associated with hearing loss in 10-20% of patients. Hearing loss commonly seen as cookie bite pattern.
Inner ear anomalies commonly seen in congenital rubella infection?
- Cochleosaccular degeneration (Scheibe dysplasia)
- Strial atrophy
Early vs late Syphilis infections and effects on hearing
Early: Initial symptoms present from birth to 2 years of age. SNHL is bilateral, flat and usually without vertigo
Late: Symptoms can be seen anytime after 2 years of age. SNHL can be sudden, asymmetric, fluctuating, progressive, accompanied by episodic tinnitus and vertigo
Major features of congenital syphilis infection
- SNHL
- Interstitial keratisis
- Hutchinson teeth (notched incisors)
- Mulberry molars
- Clutton joints (bilateral painless knee effusions)
- Nasal septal perforation and saddle nose deformity
- Frontal bossing
- Osteochondritis and periostitis of long bones leading to saber shin deformity
Clinical findings associated with congenital toxoplasmosis infection
90% of infants have no s/sx. Infant may later develop progressive lesions, commonly chorioretinitis. Can develop progressive CNS involvement with decreased intelligence, SNHL commonly associated with calcified scars in stria vascularis and precocious puberty.
What congenital anomaly results in complete absence of differentiated inner ear structures and may be associated with stapes aplasia or malformation, anomalous facial nerve course and vestibulocochlear nerve aplasia?
Michel aplasia
Pathophysiology of Michel aplasia?
Developmental arrest of otic placode before gestational week 3. Has been associated with thalidomide exposure
What congenital ear anomaly results from developmental arrest of cochlear formation at week 7 of gestation, causing failure in cochlear partitioning, an absent interscalar septum, a modiolus that is poorly formed or deficient and a cochlear with only 1-1.5 turns?
Mondini malformation
Mondini malformation is commonly seen in what congenital syndrome?
Pendred
What additional inner ear anomalies are commonly seen in a child with Mondini malformation?
- Enlarged vestibular aqueduct
- Semicircular canal deformities
- Communication with subarachnoid space (increased risk for meningitis)
Patients with mondini malformation are at increased risk of what during cochlear implantation?
Perilymphatic gusher (increased risk of dead ear or bacterial meningitis)
Arrested development of the pars inferior of the otocyst causes dysplasia of the cochlear and saccule, but it does not impact the semicircular canals and utricle which results in what congenital ear dysmorphology?
Scheibe dysplasia (cochleosaccular dysplasia)
What congenital anomaly results from aplasia of the cochlear duct and subsequent dysfunction of the organ of Corti, particularly the basal turn of the cochlea and adjacent ganglion cells?
Alexander aplasia - results in high frequency hearing loss with relatively preserved low frequency hearing
Radiographic definition of enlarged vestibular aqueduct
Aqueduct is enlarged when greater than 1.5mm wide at midpoint between common curs and external aperture (roughly the diameter of the posterior SCC)
What percentage of congenital SNHL is genetic
50-60% of cases with 30% of these considered syndromic (most commonly Pendred)
- Of syndromic cases 75-80% are recessive and 20% are dominant, sex linked about 2-5% and mitochondrial <1%
Genetics of nonsyndromic hearing loss
- 80% of cases are autosomal recessive
- 20% are autosomal dominant
- <2% are due to X linked and mitochondiral mutations
What disorder is characterized by hearing loss, vestibular dysfunction, visual loss resulting in retinitis pigmentosa?
Usher syndrome
Types of Usher Syndrome
Type I : profound congenital deafness, absent vestibular function, onset of retinitis pigmentosa before puberty (around 10 years of age), autosomal recessive
Type 2: Hearing loss moderate to severe at birth. Normal vestibular function. Onset of retinitis pigmentosa is in late teens, autosomal recessive. Most common type.
Type 3: Progressive hearing loss. Variable vestibular function. Retinitis pigmentosa variable onset. Progressive hodgkin lymphoma. Autosomal recessive
Type 4: Similar to type 2 clinically but X linked recessive inheritance
What are pathologic temporal bone findings in patients with Usher syndrome?
Atrophy of organ of Corti at basal turn associated with spiral ganglion degeneration (similar to Scheibe inner ear dysplasia)
SNHL which may be profound at birth or progressive, and abnormal iodine metabolism typically resulting in euthyroid goiter are classic manifestations of which congenital disorder?
Pendred syndrome
What inner ear abnormalities are found in patients with Pendred syndrome?
- Modiolar deficiency and vestibular enlargement (100%)
- Absence of interscalar septum between upper and middle cochlear turns (75%)
- Enlargement of vestibular aqueduct (80%)
