Kelainan Kongenital THT

dr. Muhammad Edy Syahputra Nasution, M.Ked(ORL-HNS), Sp.T.H.T.K.L.

Departemen T.H.T.K.L.
Fakultas Kedokteran UMSU
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Kelainan Kongenital Telinga

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Embriologi
 Minggu ketiga embrio
 Terbentuk:
- arkus brakialis pertama 
tragus, heliks crus, dan heliks
- arkus brakialis kedua  sekitar
aurikula
 Minggu keenam:
 arkus brankhial primer dan
sekunder  6 hillocks (tuberkel)
 Hillocks 1-3 berasal dari arkus
pertama & hillocks 4-6 berasal
dari arkus kedua.
 Bulan ketiga:
 Aurikula terbentuk lengkap
Anatomi-Morfometri

 Aurikula
- tinggi: 63,5 mm
- lebar: 50- 65% dari
tingginya
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 Mikrotia

 Terdapat beberapa derajat malformasi (disertai atau tidak

disertai atresia liang telinga)
 0.03% dari seluruh kelahiran
 hemifacial microsomia, chromosomal abnormalities
 Atresia liang telinga harus dideteksi dini  delayed
speech
 Membutuhkan bedah rekonstruksi pada aurikula
Klasifikasi Jahrsdoerfer dan Aguliar
Derajat I Stuktur daun telinga normal,
hanya ukuran lebih kecil dari
normal

Derajat II Ada kelainan/defisiensi pada

strukturnya, misalnya tidak ada
skapa/tidak ada lobul/heliks
hilang/antiheliks hilang/mangkuk
konka hilang

Derajat III Deformitas daun telinga

berbentuk seperti kacang/tidak
ada struktur yang dapat
dikenali/anotia
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 Evaluasi diagnostik
 Audiometri nada murni  anak cukup umur
 Jahrsdoefer : Auditory Brainstem Respon  bayi 
mengevaluasi gangguan pendengaran sensorineural
atau konduktif
 Tomografi Komputer  anak usia 4-6 tahun 
informasi anatomi telinga dan penentu perlu
tidaknya rekonstruksi atresia
 Terapi: Operasi rekonstruksi aurikula
 Makrotia

 Telinga besar namun bentuknya normal

 Makrotiayang sebenar-benarnya jarang
dijumpai: malformasi vaskular,
hemihipertrofi, neurofibromatosis,
hemangioma
 Terapi: operasi
Fistula Preaurikular
 Etiologi
 Kegagalan penggabungan tuberkel pertama dan kedua
 Kelainan herediter yang bersifat dominan
 Gejala dan Tanda
 Sering ditemukan di depan tragus berbentuk bulat atau lonjong dengan ukuran
seujung pensil
 Dari muara fistel sering keluar cairan yang berasal dari kelenjar sebasea
 Obstruksi atau infeksi fistula
 Sering terjadi pioderma atau selulitis fasial
 Terapi
 Infeksi akut  antibiotik
 Jika terbentuk abses  insisi dan drainase
 Bila cairan keluar berkepanjangan atau terjadi infeksi berulang  operasi  fistel
diangkat seluruhnya  mencegah kekambuhan 11
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 Atresia Liang Telinga

 Pendahuluan
 Kegagalan kanalisasi bagian epithelial plug dari
branchial cleft pertama
 Pembentukan membran atau tulang (atau keduanya)
pada level membran timpani
 Malformasi osikular
 Epidemiologi
 Bilateral (29% kasus, 61% kasus terjadi pada laki-laki)
 Jika unilateral  lebih sering pada telinga kanan (58%)
 Dijumpai riwayat keluarga pada 14% kasus
Terapi:
 Bone anchored
hearing aids (BAHA)

 Operasicanaloplasty (setelah usia 5 atau 6

tahun), setelah evaluasi dengan CT scan
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Kelainan Kongenital Hidung

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Choanal atresia

 Choana is derived from a Greek word, Χοανη, meaning a funnel. The choanae
are, by definition, the posterior apertures of the nose
 the majority of cases are due to persistence of the epithelial cells which
proliferate within the nasal cavities during the sixth to eighth weeks of
intrauterine development.
 Choanal atresia may be bony (90%) or membranous (10%) and is generally
sited just in front of the posterior end of the nasal septum.
 Asymmetry of the facial skeleton is common, especially in those with
unilateral atresia, and most patients will have a high arched palate.
 Incomplete obstruction of the posterior nasal aperture may also occur

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Clinical features

 Unilateral choanal atresia, unless specifically sought at birth, may not

become apparent until later childhood or even adulthood.
 Feeding difficulties may occur, especially during breast feeding when the non-
affected side of the nose is occluded by contact with the breast.
 More commonly, however, it presents as a unilateral nasal discharge.
 Bilateral atresia, on the other hand, almost always presents as a respiratory
emergency, and is, thus, apparent at birth.

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 The reflexes, which in the older child or adult will result in breathing through
the mouth in response to nasal obstruction, do not develop until some weeks
or months after birth.
 will sometimes demonstrate a cyclical change in oxygenation, becoming
cyanosed during quiet periods, normal colour returning when the child cries.
 While choanal atresia may be found as an isolated anomaly, about 60% of
cases are associated with one or more supplementary congenital defect

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Diagnosis

 The time-honoured method of determining patency of the nose in the

newborn infant, is the visualized ability to pass a soft red-rubber catheter
through each side of the nose into the oropharynx.
 Failure to pass the catheter, however, is not conclusive evidence for the
presence of atresia of the posterior nares; the tip may become impacted in
the adenoid or may be deflected by minor abnormalities of the turbinates
 computerized tomography gives rather more information, especially with
regard to whether the obstruction is membranous or bony and, in the latter
case, the actual structures involved and their thickness

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Management

 The essential aim of treatment of choanal atresia is the creation of patent

nasal airways.
 In the case of unilateral atresia, there is seldom any urgency in the
presentation and surgery can be undertaken as a planned.
 Bilateral atresia, however, always presents as a respiratory emergency and
management must, therefore, be considered under two headings:
 (1) primary, or emergency, treatment
 (2) secondary, or definitive, surgery.

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Septal deviation

 Some degree of nasal septal deviation is found in 58% of all newborn babies,
and in 4% of births there is also an associated external nasal deformity (Gray,
1985).
 Two mechanisms have been proposed to explain how such deformities may
arise:
 (1) differences in the rate of growth of the septum as compared to other midfacial
structures, resulting in a septum which is too big for the space it has to occupy
 (2) trauma to the nose, either as the result of prolonged contact with the uterine
wall or during parturition, especially when this is protracted

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 The resulting nasal obstruction, which may affect one or both sides, usually
presents, in the neonate, as difficult or slow feeding, often accompanied by
colic due to air swallowing.
 If, as frequently happens, nasal infection supervenes, the child will become
snuffly and in some cases the nasal blockage is so severe as to mimic choanal
atresia.
 Inspection of the nose may reveal displacement of the quadrilateral cartilage,
but more posteriorly sited deformities of the perpendicular plate of the
ethmoid or vomer, are not always visible.
 A good estimate of nasal patency may be made by comparing the air-blast
heard over each nostril

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Congenital nasal masses

 Congenital nasal masses are rare, occurring once in every 20.000-40.000 live
births.
 All intranasal masses in children, and especially if unilateral should be treated
with the gravest suspicion and circumspection.
 Failure to differentiate between a simple nasal polyp and a communicating
meningoencephalocoele may lead to cerebrospinal fluid rhinorrhoea, with
resultant risk of meningitis.

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Causes of nasal swelling in childhood

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Kelainan Kongenital Faring

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EMBRYOLOGY

 The oral cavity is separated from the nasal cavity posteriorly by midline fusion of
the secondary palate and anteriorly by the approximation of the primary palate to
these shelves. The two halves of the lower jaw arise from mesenchyme derived
from the first branchial arch and eventually fuse medially. Midline union of the
mandibular portions of the first branchial arches, the earliest fusion event in the
face, normally occurs during the fourth week of intrauterine life.
 The anterior two-thirds of the tongue are formed from two lateral swellings that
arise from the first branchial arch. The posterior one-third of the tongue develops
behind the foramen cecum from second arch mesenchyme. Thus, the anterior and
posterior sections of the tongue have separate innervations and blood supplies.
 The parotid glands arise from solid epithelial cords that proliferate from the
ectodermal lining of the primitive mouth. The submandibular glands are of
endodermal origin

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Anomalies of Pharynx

 Pharyngeal atresia and congenital large pharynx have been reported.

 The presence of a subglossopalatal membrane has been reported in one girl,
who developed dyspnea and dysphagia after birth
 The literature records a persistent buccopharyngeal membrane and
pharyngeal membrane from the anterior pillar to the base of the tongue,
interfering with speech, posterior pillar mucosal webbing, and palatal
pharyngeal muscle displacement
 Newcomb (1897) reported 42 cases that included absence of pillars and tonsils
and lymphoid tissue abnormalities.

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Kelainan Kongenital Laring

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Embryology

 Respiratory primordium
 Third week– 26 days
 Respiratory primordium
separated by
tracheoesophageal folds
 Fuse to form septum (4-5 weeks)
Embryology

 Larynx from 4th and 5th

arches
 Primitive larynx altered by
hypobranchial eminence,
epiglottis, arytenoids
 Laryngeal lumen obliterated
and recanalized
Normal Anatomy

 Larynx
 Ventilates and protects lungs
 Clears secretions
 Voice
 Differences in adults and infants
 1/3 size at birth
 Narrow dimensions (subglottis vs. glottis)
 Higher in neck and more pliable
 Epiglottis narrower
Clinical Manifestations

 Respiratory obstruction
 Stridor
 Weak cry
 Dyspnea
 Tachypnea
 Aspiration
 Cyanosis
 Sudden death
Clinical Diagnosis

 History
 Premature, medical problems
 Birth records, intubation history
 Symptom frequency, feeding
 Physical exam
 Observation
 Voice
 Flexible exam
Clinical Diagnosis

 Radiography
 Neck films, chest films
 Barium swallow
 CT/MRI
 Endoscopy in OR
 Gold standard
Supraglottic Anomalies

 Laryngomalacia
 Most common (60%)
 Boys>girls
 Inspiratory stridor: *not always at birth
 Benign, self-limiting
 May be severe
 Immature larynx
Supraglottic Anomalies

 Laryngomalacia
 Diagnosis: flexible laryngoscopy
 Occasional endoscopy
 Treatment= expectant, reassurance
 Position changes
 Close follow up

 Severe cases= surgery

Supraglottic Anomalies
Supraglottic Anomalies

 Saccular cysts
 Similar to laryngoceles
 Filled with mucous
 May need immediate
trach/intubation*
 Endoscopically vs. open
Supraglottic Anomalies

 Laryngofissure
 External approaches
 Recurrences if entire cyst
not removed
Supraglottic Anomalies

 Laryngocele
 Dilated sac filled with air (ventricle)
 Internal vs. external
 May present at birth– stridor*
 Difficult to diagnose– CT?
 Endoscopic or open procedures
 Recurrences low
Supraglottic Anomalies

 Vascular and lymphatic malformations

 Hemangiomas
 30% birth– grow in first 6-18 months
 Dyspnea, stridor, feeding problems later*
 Endoscopic evaluation
 Multiple treatment options

 Lymphangiomas
 Compress epiglottis– airway distress at birth*
 Symptoms varied
 Endoscopic evaluation: CO2 laser
Supraglottic Anomalies
Supraglottic Anomalies

 Supraglottic webs– rare

 Anomalous cuneiform cartilage
 Bifid epiglottis
 Pallister-Hall syndrome (hypothalmus, polydactaly, laryngeal)
Glottic Anomalies

 Laryngeal webs
 Failure of recanalization of larynx
 75% at glottic level
 Most anterior with subglottic involvement
 Four types– increasing severity
 May present at birth*
 Diagnosis: flexible laryngoscopy
 Airway films helpful with subglottis
Glottic Anomalies
Glottic Anomalies

 Treatment dependent on
type and symptoms
 Simple division
 Local flaps
 Staged dilations
 Endoscopic or open keel
insertion
Glottic Anomalies

 Laryngeal Atresia
 Most severe process from failed recanalization
 Always present at birth*
 Only survive if TEF or immediate trach
 Later LTR
 Other anomalies
Glottic Anomalies
Glottic Anomalies

 Congenital High Upper Airway Obstruction

(CHAOS)
 1994– ultrasound with large lungs, flat diaphragms,
dilated airways, fetal ascites
 EXIT procedure (ex utero intrapartum treatment)
 Multidisciplinary team
 C-section, maintain placental blood flow, quick tracheotomy
Glottic Anomalies

 Vocal cord paralysis

 Second most common cause of stridor
 10-15% of laryngeal pathology
 Unilateral vs. bilateral
 Vagus nerve damage
 Idiopathic (47%)
 ACM, hydrocephalus, trauma, cardiac problems
Glottic Anomalies

 Vocal cord paralysis

 Poor cough, aspiration, pneumonia
 Cry or voice (?normal)
 Stridor most common
 Airway control imperative
 History and PE
 Flexible laryngoscopy
 Airway films, U/S, barium swallow,
CT/MRI, endoscopy
Glottic Anomalies

 Bilateral vocal cord paralysis

 Tracheotomy in 50%
 Present at birth*
 ACM– posterior fossa decompression/shunt
 Serial endoscopy/EMG
 60% return with ACM
 If not, lateralization procedures (over one year)–
Woodman arytenoidectomy, laser
cordotomy/arytenoidectomy/cordectomy, open
procedures, reanimation, electrical pacers
Glottic Anomalies

 Unilateral TVC paralysis

 Less urgent
 Do not present at birth
usually
 Weak cry, airway adequate
 Speech therapy
 Thyroplasty?
Subglottic Anomalies

 Subglottic hemangioma
 Congenital vascular lesion—
variable symptoms
 30% at birth– most in 6 weeks-18
months
 Growth phase, involution phase
 Biphasic stridor*later
 Cutaneous involvement (50%)
Subglottic Anomalies

 Diagnosis
 History, PE
 Radiographs

 Rigid endoscopy
 Compressible, blue-red mass,
posterior-lateral wall of
subglottis
Subglottic Anomalies
Subglottic Anomalies

 Subglottic hemangioma
 Tracheotomy
 Laser ablation– CO2 vs. KTP
 EBR, cryotherapy, sclerosing agents
 Corticosteroids
 Open excision
Subglottic Anomalies

 Posterior laryngeal cleft

 Failure of tracheoesophageal septum development (rostral portion)
 6% with TEF have PLC
 Pallister-Hall syndrome
 May present at birth*
 Respiratory distress with feeds, cyanosis
 Aspiration, pneumonia, death
Subglottic Anomalies

 Posterior laryngeal cleft

 Chest radiographs
 Barium swallow
 Endoscopy important
 Relationship of cleft to cricoid
 Four types
Subglottic Anomalies

 Posterior laryngeal clefts

 GERD control
 Endoscopic, open (2 layer closure)
 Sternotomy
 Overall mortality 43%
 Type IV clefts: 93% mortality
Subglottic Anomalies

 Subglottic stenosis
 Acquired or congenital
 Failure of laryngeal lumen to
recanalize
 Membranous vs. cartilaginous
 Other anomalies
 Less than 4.0 mm (3.5 mm)
Subglottic Anomalies

 Subglottic stenosis
 Respiratory distress at
delivery to recurrent croup
 Usually not at birth*
 History and PE (biphasic
stridor)
 Endoscopy
 Cotton grading system
Subglottic Anomalies

 Subglottic stenosis
 Most conservative*
 Dilation or laser not useful
 Terima Kasih

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