Congenital anomalies

1. BRANCHIAL CYSTS et. al.,
Abdi sheikh
Dr Joel

2. OUTLINE
• Branchial cysts
• Branchial fistula
• Hygroma cyst
• Carotid body tumour
• Cervical lymphadenopathy

3. BRANCHIAL CYST & FISTULA

4. BRANCHIAL CYSTS
• Branchial is derived from Greek word branchia that refers to gills.
• Branchial cleft cysts are congenital epithelial cysts, which arise
on the lateral part of the neck from a failure of obliteration of the
second branchial cleft in embryonic development.
• Branchial cleft cysts are the most common cause of congenital
neck masses.
• There is a tendency for cases to cluster in families.
• They are congenital, but may not present until later in life
usually early adulthood.

6. FEATURES
• The cyst usually presents in the upper neck in early or middle
adulthood and is found at the junction of the upper third and middle
third of the sternomastoid muscle at its anterior border.
• Many branchial cleft cysts are asymptomatic.
• It is a fluctuant swelling that may transilluminate and is often soft in
its early stages so that it may be difficult to palpate.
• Depending on the size and the anatomical extension of the
mass, local symptoms, such as dysphagia, dysphonia,
dyspnea, and stridor, may occur.

7. FEATURES 2
• They may become tender, enlarged, or inflamed, or they may
develop abscesses, especially during periods of upper
respiratory tract infection, due to the lymphoid tissue located
beneath the epithelium.
• Spontaneous rupture of an abscessed branchial cleft cyst may
result in a purulent draining sinus to the skin or the pharynx.

8. DDX
• Lymphadenopathy (reactive, neoplastic, lymphoma, metastasis)
• Vascular neoplasms and malformations
• Capillary hemangioma
• Carotid body tumour
• Lymphatic malformation (cystic hygroma)
• Ectopic thyroid tissue
• Ectopic salivary tissue
• Hydatid cyst of the neck

9. EXAMINATION OF THE MASS
• Size
• Site
• Shape
• Surface
• Consistency
• Fixation: deep/superficial
• Pulsatility
• Compressibility
• Transillumination
• Bruit

10. DIAGNOSIS
Ultrasound scan
CT of the neck
MRI of the neck
FNAC

11. MANAGEMENT
• Antibiotics are used to treat infections or abscesses related to
branchial cysts.
• Surgical management is the definitive management.
• Branchial cleft cyst surgery is best delayed until the patient is at
least age 3 months. Definitive branchial cleft cyst surgery
should not be attempted during an episode of acute infection or
if an abscess is present. Surgical incision and drainage of
abscesses is indicated if present, usually along with concurrent
antimicrobial therapy.
• In patients over 40 years of age, a high index of suspicion for a
necrotic metastatic lymph should exists and malignancy should be
excluded before excision.

12. Complications
• Untreated branchial cleft cyst lesions are prone to recurrent
infection and abscess formation with resultant scar formation
and possible compromise to local structures.
• Complications of surgical excision of branchial cleft cysts result
from damage to nearby vascular or neural structures, which
include carotid vessels and the facial, hypoglossal, vagus, and
lingual nerves.
• There are rare case reports of malignancies having been
identified in branchial cleft lesions, including branchiogenic
carcinoma and papillary thyroid carcinoma.

13. prognosis
• Following surgical excision of branchial cleft cysts, recurrence is
uncommon, with a risk estimated at 3%, unless previous
surgery or recurrent infection has occurred, in which case, it
may be as high as 20%.

14. BRANCHIAL FISTULA
• A branchial fistula is thought to represent a persistent second
branchial cleft.
• It may be unilateral or bilateral.
• The external orifice is nearly always situated in the lower third of the
neck near the anterior border of the sternocleidomastoid, while the
internal orifice is located on the anterior aspect of the posterior
faucial pillar just behind the tonsil.

15. Branchial fistula
• The internal aspect of the tract may, however, end blindly at or close
to the lateral pharyngeal wall, constituting a sinus rather than a
fistula.
• The tract is lined by ciliated columnar epithelium and, as such, there
may be a small amount of recurrent mucopurulent discharge onto the
neck.
• The tract follows the same path as a branchial cyst and requires
complete excision to avoid recurrence.

17. Cystic hygroma
• Lymphangiomas are benign malformations of the lymphatic
system and can occur anywhere in the body.
• Cystic hygromas are macrocystic lymphangiomas that occur in
the neck and less frequently in the cheek, axilla, groin and
mediastinum.
• Other types of lymphangiomas include capillary & cavernous.

18. AETIOLOGY
• They are usually congenital, but can be acquired as a result of trauma,
inflammation or lymphatic drainage obstruction.
• Karyotropic abnormalities present in 25-70% of children with
lympangiomas e.g. Turner, Klinefelter, Trisomy 21, trisomy 18,
trisomy 13.
• There is also an association with intrauterine alcohol exposure.
•

19. Pathophysiology
• Lymphangiomas are thought to arise from the following:
1. Sequestration of lymphatic tissue from lymphatic sacs during
development
2. Failure of these tissues to communicate with the lymphatic or
venous system
3. Tissue dilation resulting in the cystic morphology
• These lymphatic rests can penetrate adjacent structures or
dissect along fascial planes and eventually become canalized.
Because of the lack of an outflow tract, these spaces retain their
secretions and develop cystic components.
• The nature of the surrounding tissue determines whether the

20. presentation
• Cystic hygromas usually present in the neonate or in early infancy,
and occasionally may present at birth and be so large as to obstruct
labour.
• The cysts are filled with clear lymph and lined by a single layer of
epithelium with a mosaic appearance.
• Swelling usually occurs in the neck and may involve the parotid,
submandibular, tongue and floor of mouth areas. The swelling may be
bilateral and is soft and partially compressible, visibly increasing in
size when the child coughs or cries. The characteristic that
distinguishes it from all other neck swellings is that it is brilliantly
translucent.

21. DDX
• Branchial cleft cyst
• Mucocele
• Teratomas
• Thyroglossal cyst
• Neck abscess

22. diagnosis
Intrauterine
• Transabdominal USS by ten weeks or via transvaginal USS
• Fast spin MRI
• Elevated alpha-fetoprotein levels in amniocentesis fluid have
been reported in pregnancies.
Flexible laryngoscopy performed by an otolaryngologist can be
a useful adjunct to evaluate vocal fold mobility as well as airway
patency.
MRI, CT & USS of the neck

24. MANAGEMENT
• Watchful waiting in asymptomatic patients.
• Use of sclerosing agents like such as OK-432 (an inactive strain of
group A Streptococcus pyogenes), bleomycin, sodium
tetradecyl sulfate.
• IV antibiotics in case of infection
• Mainstay is surgical excision.
• The exceptions to excision at the time of diagnosis include
premature infants who are small and those with involvement of
crucial neurovascular structures that are small and difficult to
identify (e.g. facial nerve). If no airway obstruction is present,
surgery can be delayed until the child is aged 2 years or older,

25. Complications
• Hemorrhage
• Infection
• Damage to neurovascular structures
• Chylothorax
• recurrence

26. prognosis
• the reported mortality has been as high as 2-6%, usually
secondary to pneumonia, bronchiectasis, and airway
compromise.

27. CAROTID BODY TUMORS

28. CBT a.k.a Chemodectoma
• Carotid body tumors (CBTs) are rare.
• These tumors develop within the adventitia of the medial aspect
of the carotid bifurcation.
• The carotid body originates in the neural crest. (function…

29. classification
Three classes of CBT
• Familial, more common in younger people
• Sporadic, most common
• Hyperpastic, common in patients with chronic hypoxia such as
those living at high altitudes, copd, cyanotic heart disease.

30. pathophysiology
• Genetically, genes encoding the subunits of the enzyme
succinate dehydrogenase complex, which is part of the Kreb's
cycle. Defective succinate dehydrogenase has been postulated
to cause an increase in the intracellular concentration of
molecular hypoxia mediators and the vascular endothelial
growth factor (VEGF) thus resulting in hyperplasia,
angiogenesis, and neoplasia.
• Chronic hypoxic conditions lead to hypertrophy, hyperplasia,
and neoplasia of the chief cells.
• CBTs can be occasionally coupled with non paraganglonic
tumors in syndromes, including MEN type II, von Hippel-Lindau
syndrome, and neurofibromatosis type 1.

31. presentation
• CBTs present most commonly as an asymptomatic palpable
neck mass in the anterior triangle of the neck.
• They are slow-growing tumors that can remain asymptomatic
for many years. The doubling time (TD) as estimated by Jansen
et al using sequential imaging, was 7.13 years with a median
growth rate of 0.83 mm/year.
• Approximately 10% of the cases present with cranial nerve
palsy with paralysis of the hypoglossal, glossopharyngeal,
recurrent laryngeal, or spinal accessory nerve, or involvement
of the sympathetic chain.
• CBTs may, therefore, be associated with pain, hoarseness,
dysphagia, Horner syndrome, or shoulder drop

32. Presentation 2
• As the tumor enlarges and compresses the carotid artery and
the surrounding nerves, other symptoms may also be present,
such as pain, tongue paresis, hoarseness, Horner syndrome,
and dysphagia.
• In cases of functional carotid body tumors, symptoms similar to
those of pheochromocytoma, such as paroxysmal hypertension,
palpitations, and diaphoresis, are seen.

33. On examination
• the mass is typically vertically fixed because of its attachment to
the bifurcation of the common carotid (Fontaine sign).
• The mass is firm, rubbery, pulsatile, mobile from side to side but not
up and down, and can sometimes be emptied by firm pressure, after
which it slowly refills in a pulsatile manner.
• A bruit can be felt; however, the absence of a bruit does not rule
out a carotid body tumor.
• Vagal body tumors are more cranially located and sometimes
project into the lateral pharynx as a pulsatile mass.

34. Diagnosis
• USS with colour doppler to assess vascularity of the neck mass.
• CT of head & neck usually revealing hypervascularity of tumor
between external and internal carotid arteries.
• MRI with classic salt & pepper appearance in T1 weighted
• MR angiography
• Fine needle aspiration and biopsy should be avoided

35. staging
Shamblin describes 3 different types or stages of carotid body
tumors.
• Type I consists of a small tumor that is easily dissected from the
adjacent vessels in a periadventitial plane.
• Type II tumors are larger and more adherent and partially
surround the vessel.
• Type III tumors are large and completely surround the carotid
bifurcation.
As described, types II and III tumors are more likely to require
carotid resection.

37. MANAGEMENT
• Choice is made between radiotherapy and surgery and should
consider factors such as,
presence of other paragangliomas
presence of bilateral carotid body tumors
age
health of the patient
patient's preference.

38. Cervical lymphadenopathy
• Enlargement of the cervical lymph
glands is the most common cause
of a swelling in the neck.

39. causes
• Inflammatory e.g. Reactive hyperplasia
• Infective
Viral For example, infectious mononucleosis, HIV
Bacterial Streptococcus, Staphylococcus Actinomycosis Tuberculosis
Brucellosis
Protozoan e.g. Toxoplasmosis
• Neoplastic
Malignant Primary (e.g. lymphoma)
Secondary (e.g. squamous cell carcinoma

40. inflammatory
• Non-specific inflammatory lymphadenopathy commonly follows
recurrent bouts of tonsillitis, especially if the attacks have been
treated inadequately. This is common in children less than 1o
years.
• Non-specific reactive lymphoid hyperplasia can follow any
inflammatory process or be associated with skin conditions,
particularly of the scalp, when it is termed dermatopathic
lymphadenopathy.

41. NEOPLASTIC

42. REFERENCES
• Andrew W. McCaskie et. Al., Bailey & love’s Short Practice of Surgery
27th edition 2017 CRC Press Chapter 47
• Medscape
https://emedicine.medscape.com/article/1575155-treatment#d1
• Norman L. Browse et. Al., Browse’s Introduction to The Symptoms
and Signs of Surgical Disease.
• F. Charles et. Al., Schwartz’s Principles of Surgery 11th edition