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BRANCHIALANOMALIES

David Gleinser, MD

Harold Pine, MDUniversity of Texas Medical Branch (UTMB)

Department of OtolaryngologyGrand Rounds Presentation

September 30, 2011

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Embryology

Branchial anomalies result from improperdevelopment of the branchial apparatus

Branchial apparatus develops 2nd

-6th

week Neck is shaped like a hollow tube with

circumferential ridges = Arches (mesoderm)

Ridges between arches = Clefts and Pouches Clefts = outside (ectoderm)

Pouches = inside (endoderm)

CAP

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Arches

Each arch contains Cartilage Cranial nerveArtery

Muscle component

All neural crest origin

6 arches, only 5 form structures in humans 1, 2, 3, 4, and 6 5th fails to develop

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1stArch Mandibular Arch

Skeletal components Meckels cartilage

Framework for mandible

Malleus head and neck

Incus body and short process

Muscles Muscles of mastication

Anterior digastric

Mylohyoid

Tensor tympani

Tensor veli palatini

Nerve CN V (Trigeminal)

Artery Maxillary; external carotid

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2ndArch Hyoid Arch

Skeletal components Reicherts cartilage

Stapes Malleus manubrium Incus long process Styloid process

Hyoid bone (lesser horn and upper body)

Muscles Facial expression, buccinator, platysma, stapedius, stylohyoid,

posterior digastric

Nerve CN VII (Facial)

Artery Stapedial

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3rd Arch

Skeletal components

Hyoid (greater horn and lower body)

Muscles Stylopharyngeus

Nerve

CN IX (Glossopharyngeal)Artery

Common/Internal carotid

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4th Arch

Skeletal components

Thyroid, epiglottic, cuneiform cartilages

Muscles Cricothyroid, inferior constrictors

Nerve

Superior laryngealArtery

Subclavian, aortic arch

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6th Arch

Skeletal components

Cricoid, arytenoids, corniculate

Muscles

All intrinsic muscles of larynx (except

cricothyroid)

Nerve

Recurrent laryngeal

Artery

Pulmonary artery

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Branchial Clefts and Pouches

4 clefts and 4 pouches

5th and 6th contribute to the 4th

Clefts provide covering to structures of

the corresponding arch and pouch

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Pouches

1st Pouch Eustachian tube, middle ear, mastoid, inner layer

of tympanic membrane

2nd Pouch Tonsils, root of tongue, foramen cecum,

pharynx(part)

3rd Pouch ventral and dorsal wings Ventral wing Thymus

Dorsal wing inferior parathyroid glands

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Pouches

4th Pouch Superior parathyroid glands

Parafollicular C-cells of thyroid gland

5th Pouch Contributes to Parafollicular C-cells

6th Pouch Contributes to laryngeal musculature and

cartilage

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1st Arch Anomalies

Involves malformations of eyes, ears,

palate, and mandible

2 main manifestations of First Arch

Syndrome

Treacher Collins Syndrome

Pierre Robin Syndrome

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Treacher Collins Syndrome

Mandibulofacial dysostosis

Inherited AD

Features

Midface and mandibular hypoplasia Ear anomalies: microtia, anotia, stenotic or

atresia of EAC, malformation of malleus andincus (CHL)

Eye anomalies: coloboma of lower lids, down-slopping palpebral fissures

Cleft palate

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Treacher Collins Syndrome

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Pierre Robin Syndrome

3 Main features

Micrognathia (small mandible)

Glossoptosis (posterior

displacement/retraction of tongue)

Cleft palate (U-shaped)

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Pierre Robin Syndrome

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2nd Arch Anomalies

Malformed auricle

Microtia

Ossicular malformation

Stapes, malleus, incus

CHL

Muscular asymmetry of face

Hyoid malformation

lesser horn and upper body

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3rd Arch Anomalies

Hyoid anomalies

Lower body

Greater horn

Aneurysm of carotid artery

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4th Arch Anomalies

Laryngeal stenosis

Laryngoptosis (low position of larynx)

Chondromalacia Double aortic arch

Pulmonary artery sling

Left pulmonary artery originates from rightpulmonary artery

Slings around right main-stem bronchus

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Double Aortic Arch

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Pulmonary Artery Sling

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1st Pouch Anomalies

Atretic eustachian tube -> recurrent OM

ET diverticuli

Absence

Tympanic cavity Mastoid antrum

Perforated TM

Bifid tongue Branchiogenic nasopharyngeal cysts (very

rare)

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2nd Pouch Anomalies

Thyroglossal duct cyst

7% of population

Failure of ablation of TGD

Anywhere from base of tongue to upper

mediastinum

Typical finding

Cystic lesion just below hyoid in midline thatmoves with deglutination and tongue protrusion

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TGD Cyst

May contain thyroid tissue

Potentially the only functioning thyroid

Perform U/S or CT to look for thyroid and to

assess lesion Treatment surgical

May contain cancer

1%Papillary carcinoma

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TGD Cyst

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2nd Pouch Anomalies

Lingual Thyroid

Failure of decent of thyroid -> atopic 90% of cases at the base of tongue (lingual

thyroid) 4:1 female:male

Usually not noted until teenage or young adult

Asymptomatic (most cases); dysphagia,

airway compromise Reddish mass (well vascularized) at base of

tongue

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Lingual Thyroid

Hypothyroidism 70% of cases

2/3 cases only functioning thyroid tissue

Thyroid function study prior to treatment

TreatmentAsymptomatic Monitor

Symptomatic

Excise +/- transplant tissue into muscles of neck

Radioiodine therapy (destroys all thyroid tissue)

Usually require lifelong thyroid replacement

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Lingual Thyroid

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Lingual Thyroid

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Lingual Thyroid

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3rd and 4th Pouch Anomalies

DiGeorge Syndrome Congenital absence of thymus and parathyroids

Partial deletion of chromosome 22

CATCH -22 Cardiac anomalies

Abnormal facies

Thymic aplasia

Cleft palate

Hypocalcemia

Tetany and impaired cellular immunity (T-cells)

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3rd and 4th Pouch Anomalies

Accessory or undecended parathyroid

glands

Thymic cysts

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Branchial Cleft Anomalies

1st Cleft

Cysts, EAC atresia or stenosis, pits of lower

lips, preauricular sinuses or tags

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Branchial Cleft Anomalies

2nd Cleft Cysts Cervical sinuses

3rd Cleft Cysts (rare) Thymic cysts

4th

Cleft Cysts (extremely rare) Cysts on the Vagus nerve -> cough

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Branchial Cleft Cysts

Results from failed obliteration of branchial

clefts

2-3% are bilateral

2nd

cleft cyst is the most common type ~95% of cases

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1st Branchial Cleft Cyst

Work Classification

Type I Preauricular mass or sinus

Ectoderm

Sinus tract is anterior and medial to the EAC

Preauricular region Lateral to CN VII Parallels EAC

Ends in EAC or middle ear

Type II More common than Type I

Presents at the angle of mandible or submandibular region

Angle of mandible -> Lateral or medial to CN VII -> Ends

in concha or bony-cartilaginous junction of EAC.

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1st Brachial Cleft Cyst Type I

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2nd Branchial Cleft Cyst

Most common branchial cyst

Presents as a mass just anterior and

medial to the SCM in the neck

Tract

Anterior neck -> Along carotid sheath ->

Between external and internal carotid arteries

-> superficial to CN IX and XII -> Opens intotonsillar fossa

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2nd Branchial Cleft Cyst

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3rd Branchial Cleft Cyst

Closely associated with the thyroid gland

If patient with recurrent thyroid abscesses, consider

diagnosis

Usually on the left

Tract:

Lateral neck (similar or lower location than 2nd

) ->Deep to carotids -> Deep CN IX, superficial to CN XII,

Superficial to superior laryngeal nerve -> Pierces

thyrohyoid membrane -> Opens into apex of pyriform

sinus

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3rd Branchial Cleft Cyst

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4th Branchial Cleft Cyst

Very rare ~ 200 cases reported in the literature

Also associated with recurrent thyroid

abscesses

Theoretical path of tract: Low in neck (anterior to SCM) -> Deep to common

carotid -> Loops around aortic arch on the left(subclavian on the right) -> Deep to superior laryngeal

nerve -> Superficial to recurrent laryngeal nerve ->

Opens into pyriform sinus

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Work-up

Ultrasound Round mass with uniform low echogenicity and lack of internal

septations

Advantages: No radiation, no sedation for children, low cost

Not typically ordered alone

CT Homogeneous lesion with low attenuation centrally and a

smooth enhancing rim

Often part of the work-up More radiation, higher cost, may require sedation (children)

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Work-up

MRI Hypointense on T1 and hyperintense on T2

Advantages: No radiation

Disadvantages: Sedation for children, very expensive

Fluroscopic fistulography or CT fistulography Inject radiopaque dye into the fistula or sinus to delineate course

Barium swallow esophagography Help locate fistula tract in type 3 and 4 anomalies

FNA Usually only done if suspect cancer

May cause cyst to collapse -> much harder to remove at time of surgery

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Treatment Infected Cyst

Antibiotics Should cover respiratory flora and Staph aureus

(broad spectrum)

Cover 2-4 weeks

Abscess Consider needle aspiration to drain

May work without causing as much scaring as I&D

I&D if needle aspiration doesnt work

Once infection cleared, operate

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Treatment - Surgical

Complete surgical excision of tract and cyst istreatment of choice in most cases

1st cysts Must identify facial nerve as tract is usually

associated with it

If possible, wait till 2 years of age Mastoid tip defined

Facial nerve larger and deeper

Controversy: waiting can lead to more infections morescar more difficult surgery

Lacrimal probes can help locate tract

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Treatment - Surgical

3rd and 4th cysts

Must identify the recurrent laryngeal nerve as

closely associated (will be deep to tract)

Removal of ipsilateral thyroid lobe isadvocated to ensure complete removal of

tract

Perform DL to examine pyriform sinus Fogarty vascular catheter can be placed through

the sinus tract

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Endoscopic Cauterization of Pyriform

Sinus Opening

Literature describes this for treatment of

4th sinus tracts, but has been performed

with 3rd cleft anomalies

Recommendation

Performed alone

Performed with surgical resection of cyst and

tract

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Endoscopic Cauterization of Pyriform

Sinus Opening

Verret et al

Performed endoscopic cauterization of sinus

in 10 children with 4th branchial cleft

anomalies (no surgical excision!)Dilated sinus opening with balloon catheter

cautery with electrocautery ball coagulator

7 showed no recurrent disease after 3 years

3 lost to F/U

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Sources Branstetter BF, Davis LM, Coombs BD, et al. Branchial Cleft Cysts Imaging. eMedicine by

WebMD. 2011 May. Available from: http://emedicine.medscape.com/article/382803-overview.

Schoen JD and Edmonds JL. Branchial Anomalies. Childrens ENT of Houston. 2011 Sept.

Available from: http://www.childrensenthouston.com/branchial-anomalies.

Rodriguez-Vazquez JF, Merida-Velasco JR, Verdugo-Lopez S, et al. Morphogenesis of the

second pharyngeal arch cartilage (Reicherts cartilage) in human embryos. J Anat. 2006 February;

208(2): 179189.

Marino TA. Development and Fate of the Primitive Pharynx, Branchial Arches, and the Tongue.

Temple University. 2011 Sept. Available from:

http://isc.temple.edu/marino/embryology/parch98/parch_text.htm.

Verret DJ, McClay J, Murray A, et al. Endoscopy Cauterization of Fourth Branchial Cleft Sinus

Tracts. Arch Otolaryngol Head Neck Surg. 2004 April; 130: 465-468.

Bawle EV, Jyonouchi H, Park CL, et al. DiGeorge Syndrome. eMedicine by WebMD. 2010 Aug.

Available from: http://emedicine.medscape.com/article/886526-overview.

Propst EJ, Willging JP, and Alessandro de Alarcon. Branchial Arch Anomaly. Otolaryngology

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