Branchial anomalies

1. BRANCHIAL ANOMALIES
Dr. SANJAY MAHARJAN
1ST Yr. Resident,
ENT-HNS,
Manipal Teaching Hospital.

2. BRANCHIAL OR PHARYNGEAL ARCHES:
 Intimately related to
dev. of many str. In
head & neck
 Transient embryonic
structures
 Undergo substantial
remodelling

3. EMBRYOLOGY OF BRANCHIAL APPARATUS:
 Develops around 5-5
WOG
 Consists of 5 to 6 pairs
of finger like masses,
branchial arch
 Seperated externally
by indentations,
branchial cleft
 Pharyngeal pouches
are outpouchings from
foregut region

5.  Each arch has its own
1. Central cartilaginous
or skeletal elements
2. Muscular component
3. Aortic arch artery
4. Arch associated CN.

6. DERIVATIVES:
 Derivatives of arches, clefts and pouches are
distinct.
 To generalise:
• Arch  m/s, bones or similar mesodermal
derivatives
• Pouch  glandular or str. ass/w digestive tract

7. DERIVATIVES OF BRANCHIAL ARCHES:
 Cranial nerves of each arch:

8.  Skeletal derivatives:

9.  Muscular derivatives:

10.  Derivatives of aortic arches:

11. DERIVATIVES OF BRANCHIAL CLEFT:

12. DERIVATIVES OF BRANCHIAL POUCH:

14. ANOMALIES OF BRANCHIAL APPARATUS:
 Predisposed d/to
complicated
morphodynamics of
branchial arch region
 Abnormalities from minor
cyst to major orofacial
malformation
 May present as
1. Cyst: seperated & failed
to resorb
2. Sinus: failed to resorb
3. Fistula: persistence of
both cleft and pouch

15. THEORIES OF ORIGIN OF BRANCHIAL CYST:
1. Branchial apparatus theory
2. Cervical sinus theory
3. Thymopharyngeal duct theory
4. Inclusion theory (most accepted)

16. FIRST BRANCHIAL ANOMALIES
 Uncommon 1 to 4%
 Two types:
Type I:
-ectodermally derived
-duplication of the
external auditory canal
Type II:
-contain both ectoderm
and mesoderm
-hence may contain skin,
adnexa and cartilage
-extends betn mandible
& EAC

17.  Clinical features:
• as cyst/sinus/fistula
betn EAC &
submandibular area
• drainage from pit-like
depression at angle of
the mandible
• inflammatory mass in
parotid region
• auricular symptoms &
otorrhoea

18.  On CT  cystic mass
superficial/within/deep
to parotid salivary
gland

19.  Treatment:
• Usu. do not regress & prone to recurrent infection,
hence surgical excision.
• Requirements:
 EUM for sinus opening in floor
 identification and preservation of the VIIn
 partial parotidectomy
 excision of skin and cartilage of EAC around the
tract

20. FIG: Resection of cyst by superficial parotidectomy,
exposing VIIn and its branches

21. SECOND BRANCHIAL ANOMALIES:
 >90% of branchial anomalies
 communicate with oropharynx via
supratonsillar fossa
 Cyst>sinus>fistula
 Types of second branchial cyst:

22.  Tract:

23.  Clinical features:
• Smooth, soft masses in
lat neck, ant & deep to
SCM (cyst)
• Clear fluid &
transillumiates
• Recurrent neck
infection, often after
URTI (fistula)
• Pain, dyspnoea,
dysphagia

24.  Investigation:
• USG +/- FNAC
• CT, MRI

25.  Treatment:
• Surgical excision under
GA.
• transverse cervical
incision at level of hyoid
bone + any skin sinuses
in an ellipse of skin
• may require step-ladder
incisions for exposure
• Tract ligated at PBD
• If int opening is present,
tract dissected upto
pharyngeal constrictor
and ligated & divided
• Tonsillectomy may be
required if tract ends in
supratonsillar fossa

26. THIRD BRANCHIAL ANOMALIES:
 Ext: as in 2nd
 Int: piriform sinus
 Course:
• deep to third arch str
(CN IX, carotid vessels)
• superficial to fourth
arch str (SLN, CN XII)
 Cysts, lower in neck
than second branchial
cyst

27.  Clinical feature: can manifest with
• upper airway compromise in the neonate (large cysts)
• hypoglossal nerve palsy (if infected)
• neck abscess or
• retropharyngeal abscess

28.  Investigations:
• Gas in region of upper
pole of thyroid gland
abutting pyriform fossa
on ultrasound or CT is
pathognomonic of 3rd
or 4th branchial
anomalies.
• Fluoroscopic or CT
sinogram/ fistulogram
(course of a tract)

29.  Direct laryngoscopy (int.
opening in pyriform fossa)
 Barium swallow for
tract

30.  Treatment:
• Resection via transverse skin crease incision or via
thyroidectomy approach
• Surgeon should be prepared to have to identify the
RLN & to do partial thyroid lobectomy
• SLN should be preserved superiorly

31. FOURTH BRANCHIAL ANOMALIES:
 int: apex piriform sinus
 translaryngeal course
under thyroid ala,
beneath inferior
constrictor
 exits near cricothyroid
joint, superficial to RLN
& terminates in ant.inf.
region of the neck

32.  Clinical features: May
present with
• suppuratuve thyroiditis
• neck abscess
• retropharyngeal
abscess
 Investigations: as for
third branchial
anomalies

33.  Treatment:
• Excision of cyst and/or
fistula, often combined
with partial
thyroidectomy
• Endoscopic
cauterisation
• Chemocauterization
with 40%
trichloroacetic acid
(TCA) (less invasive and
proposed as 1st line treatment)

34. OTHER CONGENITAL ANOMALIES ASSOCIATED
WITH BRANCHIAL APPARATUS:
 Treacher collin
syndrome:
• AD, mutation in chr. 5
• Failed migration of neural
crest cells in 1st branchial
arch.
• sunken cheeks,
• small lower jaw and chin
(micrognathia)
• absent or unusually
formed ears
• downward slanting eyes
• cleft palate may present

35.  Pierre Robbins
syndrome:
• Maldevelopment of 1st
pharyngeal arch
• Esp. lower jaw
(micrognathia)
• May have breathing
problem.

36.  Hemifacial
microsomia:
• Malformation of 1st
branchial arch and
sometimes 2nd.
• Only one side of face
affected
• TMJ, mastication m/s,
mandible and ear are
often underdeveloped

37.  DiGeorge synd:
• 22q11 synd.
• Abnormal neural crest
cell migration with
underdevelopment of
3rd & 4th branchial
arches & pouch
• Hypocalcemia @ birth
• Immune deficiency
• micrognathia, ear
anomalies, cleft palate,
and telecanthus

38. THANK YOU… &