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Branchial Cleft Malformations, Pediatric

Basics

Description

- Phylogenetically, the branchial apparatus represents the "gills"Ł seen in fish and amphibians. - The fetal branchial apparatus is a foregut derivative and develops in the 2nd fetal week. - Five paired pharyngeal arches are separated by four endodermal pouches internally and four ectodermal clefts externally. - Overgrowth of the second through fourth cleft creates the cervical sinus and occurs during weeks 4 and 5. - Persistence of the cervical sinus produces a spectrum of cysts, sinus tracts, and fistulae. - Classification - First branchial cleft anomalies - Site: anywhere from external auditory canal to angle of mandible, usually superior to or within parotid - Fistula tract: external auditory canal

- Tumors - Lymphoma - Rhabdomyosarcoma - Cystic schwannoma (anterior triangle of neck) - Pilomatrixoma

  • Phylogenetically, the branchial apparatus represents the "gills"Ł seen in fish and amphibians.
  • The fetal branchial apparatus is a foregut derivative and develops in the 2nd fetal week.
  • Five paired pharyngeal arches are separated by four endodermal pouches internally and four ectodermal clefts externally.
  • Overgrowth of the second through fourth cleft creates the cervical sinus and occurs during weeks 4 and 5.
  • Persistence of the cervical sinus produces a spectrum of cysts, sinus tracts, and fistulae.
  • ClassificationFirst branchial cleft anomaliesSite: anywhere from external auditory canal to angle of mandible, usually superior to or within parotidFistula tract: external auditory canalSecond branchial cleft anomaliesSite: ventral to anterior border of sternocleidomastoid muscle, lateral to carotid sheath, and dorsal to submandibular glandFistula tract: palatine tonsilThird branchial cleft anomaliesSite: posterior triangle in middle to lower left side of the neck near level of upper thyroid lobeFistula: upper lateral piriform sinus wall to lower lateral neck posterior to sternocleidomastoid muscleFourth branchial cleft anomaliesSite: close association to thyroid gland associated with clinical thyroiditis if cyst infectedFistula: apex of piriform sinus to base of neck anterior to sternocleidomastoid muscle

Epidemiology

  • Overwhelming majority of cysts in newborns and infants are developmental, whereas in children and adults, they are inflammatory or neoplastic.
  • Branchial cleft cysts are the most common congenital neck lesion. Although congenital, usually present in older children and adults.
  • Branchial fistula and sinuses are common in children but cysts are more commonly seen in adults.
  • Midline malformations are most often thyroglossal duct cysts or dermoids.
  • Cysts occurring in the laterocervical region are usually branchial cleft malformations; the most common of these are derivatives of the second cleft, followed by those of the first cleft, of the fourth pouch and thymic cysts.
  • Third and fourth branchial cleft anomalies are rare, with most presenting as sinus tracts rather than cysts.
  • Suspect congenital anomaly in the clinical setting of recurrent infection.

Risk Factors

Genetics

Familial history of branchial defects occasionally noted á

Diagnosis

History

  • Present since birth
  • Recurrent neck infections
  • Intermittent discharge from neck
  • Fever
  • Tenderness

Physical Exam

  • Mass usually mobile
  • Usually a single lesion
  • Nonpulsatile
  • Lesion usually nontender (unless actively infected)
  • Assess for sites of drainage:At the anterior or posterior border of the sternocleidomastoid muscleIn the posterior pharynx at the tonsillar fossa or piriform sinus

Diagnostic Tests & Interpretation

Lab

  • Complete blood count with differential: Increased white blood cell count with left shift seen with infection.
  • Tuberculin test and interferon-gamma release assays to rule out mycobacterial infection, including atypical mycobacteria
  • Microbiology: Oral cavity flora in neck abscess is suspicious for a branchial pouch anomaly.

Imaging

  • Chest radiography to assess for hilar adenopathy, suggesting a systemic process (such as tuberculosis or malignancy)
  • Lateral neck radiography to assess for airway compromise (not usually seen)
  • Ultrasound to help differentiate solid masses from cystic masses
  • Fistulogram to inject contrast into the fistula to delineate its course
  • Computed tomography (CT) scan of neck for superior spatial delineation and definition of anatomic compartment of the lesion
  • Magnetic resonance imaging (MRI) for more detailed soft tissue characterization and recognition of solid components within cystic masses
  • CT scans and MRI may be used for preoperative planning in patients with recurrent neck masses or clinically complex cases

Differential Diagnosis

  • CongenitalAnterior triangle of neckThymic cystMidline and anterior triangle of neckRanulaLaryngoceleSialoceleThyroglossal cystDermoid/teratomatous cystBronchogenic cystPosterior triangle of neck
  • InflammatoryAdenitisGranulomatous disease (sarcoidosis, tuberculosis)Lymphoepithelial cysts (HIV)OtorrheaParotiditisRetropharyngeal abscessThyroiditis
  • TumorsLymphomaRhabdomyosarcomaCystic schwannoma (anterior triangle of neck)Pilomatrixoma

Treatment

Medication

Antibiotics are indicated if the lesion is infected. á

Surgery/Other Procedures

  • Excision of the entire lesion is the standard approach.
  • Novel endoscopic and marsupialization approaches have been reported.
  • Surgery should be delayed if infection is present.

Ongoing Care

Follow-up Recommendations

  • Postoperative follow-up as outpatient for wound inspection
  • Observation for recurrence or reinfection

Alert

  • Lesion may recur if not completely excised.
  • High incidence of reinfection if not properly treated.

Prognosis

If lesion completely excised: excellent. Many patients require multiple procedures. á

Complications

  • Cysts, sinus tracts, and fistulas can become recurrently infected (especially with abscess formation).
  • Surgery is more difficult if there has been previous infections or previous surgery.
  • Damage to facial, hypoglossal, and glossopharyngeal nerves, internal jugular vein, or carotid artery can occur during surgical repair.
  • Cyst, fistula, or sinus recurrence
  • Thyroiditis
  • Parotiditis (more common in first branchial arch malformation)

Additional Reading

  • Acierno áSP, Waldhausen áJH. Congenital cervical cysts, sinuses and fistulae. Otolaryngol Clin North Am. 2007;40(1):161-176. á[View Abstract]
  • Geddes áG, Butterly áMM, Patel áSM, et al. Pediatric neck masses. Pediatr Rev. 2013;34(3):115-124. á[View Abstract]
  • Goins áMR, Beasley áMS. Pediatric neck masses. Oral Maxillofac Surg Clin North Am. 2012;24(3):457-468. á[View Abstract]
  • Graham áA. Development of the pharyngeal arches. Am J Mes Genet A. 2003;119A(3):251-256. á[View Abstract]
  • Mandell áDL. Head and neck anomalies related to the branchial apparatus. Otolaryngol Clin North Am. 2000;33(6):1309-1332. á[View Abstract]
  • Nicollas áR, Guelfucci áB, Roman áS, et al. Congenital cysts and fistulas of the neck. Int J Pediatr Otorhinolaryngol. 2000;55(2):117-124. á[View Abstract]
  • Nicoucar áK, Giger áR, Jaecklin áT, et al. Management of congenital third branchial arch anomalies: a systematic review. Otolaryngol Head Neck Surg. 2010;142(1):21-28. á[View Abstract]
  • Nicoucar áK, Giger áR, Jaecklin áT, et al. Management of congenital fourth branchial arch anomalies: a review and analysis of published cases. J Pediatr Surg. 2009;44(7):1432-1439. á[View Abstract]
  • Pahlavan áS, Haque áW, Pereira áK, et al. Microbiology of third and fourth branchial pouch cysts. Laryngoscope. 2010;120:458-462. á[View Abstract]
  • Prabhu áV, Ingrams áD. First branchial arch fistula: diagnostic dilemma and improvised surgical management. Am J Otolaryngol. 2011;32(6):617-619.

Codes

ICD09

  • 744.49 Other branchial cleft cyst or fistula; preauricular sinus
  • 744.41 Branchial cleft sinus or fistula
  • 744.42 Branchial cleft cyst

ICD10

  • Q18.2 Other branchial cleft malformations
  • Q18.0 Sinus, fistula and cyst of branchial cleft

SNOMED

  • 253258000 Branchial cleft (disorder)
  • 204268008 Fistula of branchial cleft
  • 59857007 branchial cleft cyst (disorder)
  • 403557001 Midline cervical cleft (disorder)

FAQ

  • Q: Can the cyst, fistula, or sinus recur?
  • A: Only a 3% recurrence rate is seen if the lesion is completely excised. A higher rate of recurrence is seen in cases of incomplete excision or with previous surgeries.
  • Q: Should the lesion be removed as soon as it is discovered?
  • A: The lesion should not be removed if there is an active infection present; treat the infection first and then schedule elective surgery.
  • Q: What is the likelihood that a pediatric neck mass is malignant?
  • A: Most neck masses in childhood are either developmental or inflammatory but up to 15% may be neoplastic.