Clinical manifestations, diagnosis, and management of first branchial cleft fistula: Case series and review of the literature

Abstract

Introduction and importance

The first branchial cleft (FBC) is an extremely rare occurrence, manifesting as cysts, sinuses or fistula. Among all branchial anomalies, FBC represents 8–10 % of branchial clefts. It accounts for about 17 % of all cervical masses in childhood. FBC can be caused by inadequate removal or closure of the ectoderm. The location of the fistula can be adequately determined by magnetic resonance imaging (MRI).

Case series presentation

We report three cases from the first branchial cleft fistula (FBCF) in our ENT Department with a good response to surgical treatment. Patients had an average of 24 months of follow-up.

The aim of our study is to study the clinical manifestations, the diagnosis and the surgical management of the FBCF.

Discussion

An in-depth knowledge of the embryology of the neck and face will ensure early diagnosis and complete surgical resection of FBCFs, which will minimize the risk of severe complications including facial paralysis.

Conclusion

FBC is rare and may present as a cyst or fistula. It is managed by surgical excision, leaving the tract cyst of the fistula intact with preservation of the facial nerve.

Highlights

• •First branchial cleft is rare and may present as a cyst or fistula.
• •Diagnosis is confirmed by anatomopathological examination.
• •Treatment is surgical, and complete excision is necessary to prevent recurrence.
• •Identifying and protecting the facial nerve is essential.

1. Introduction

First branchial cleft anomalies (FBCAs) are rare congenital defects with an estimated incidence of 1 in 100,000. The arches fuse and the clefts are obliterated during embryonic development at seven weeks. Duplication or failure of the embryological tract to close [1,2] is the likely etiology of these lesions. The timing of the closure of the cleft coincides throughout development with the migration of the facial nerve and the appearance of the developing parotid gland arising from the second branchial arch, so that the FBCAs are closely associated with these structures [3].

To aid in the preoperative evaluation and surgical planning of FBCA, a number of classification systems have been developed. The most widely used system, based on both anatomical and histological features, is Work's classification, introduced in 1972. It classifies FBCA into two different types: Type I has only ectodermal components and is usually superficial to the facial nerve and adjacent to the ear; Type II has ectodermal and mesodermal components and is often medial to the facial nerve and communicating with the external auditory canal (EAC) [4].

Our study aims to investigate clinical presentation, diagnosis and surgical management of FBCF.

2. Methods

This case series includes three cases of FBCF at our ENT department.

Data collected from medical records (age, medical and disease history, physical examination: cervico-facial, otological, etc.), paraclinical data, treatment, evolution and follow-up.

The work has been reported in line with the PROCESS criteria [5].

3. Results

The present study included 3 patients (2 males, 1 female) with a mean age of 9 years, ranging from 3 to 14 years. They had no prior medical and disease history. All patients presented with recurrent right subangulomandibular swelling in 2 cases and right parotid gland swelling in one case. Physical examination revealed the presence of a productive fistula in the floor of the EAC in one case and a subangulomandibular fistula in the other two cases, suggesting a type II FBC. The absence of a premyringal flange on otoscopy was noted in all cases. Fistulography showed the fistulous pathway in 2 patients, while in the last patient the investigations performed (ultrasound, CT scan and parotid MRI) concluded that the patient had acute infectious parotitis (Fig. 1, Fig. 2).

Fig. 1.

Axial CT scan of the parotid gland showing a right parotid abscess.

Fig. 2.

Cervical MRI in coronal T1 section, non-injected (A) and injected (B) with hypersignal, swollen right parotid gland (A), heterogeneous enhancement after gadolinium injection (B).

In the last case, the operation was carried out after the infection had been completely treated with an appropriate antibiotic therapy and this was done after 3 months.

Surgical excision was performed under general anesthesia via an antegrade superficial parotidectomy approach, the facial nerve was identified and preserved in all cases. The fistula cord was dissected and followed (Fig. 3). The postoperative course was uneventful. No facial paralysis or superinfection was noted. Patients were discharged on the third day. Follow-up period was 24 months; the clinical examination did not find any sign of recurrence.

Fig. 3.

Peroperative view of the right cleft fistula (black arrow) with dissection of the facial nerve (blue arrow). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

The results of our study are summarized in Table 1.

Table 1.

Clinical, paraclinical and therapeutic data of our study.

Patient	1	2	3
Age (years)	3	6	14
Sex	Female	Male	Male
Reason for consultation	Recurrent right subangulomandibular swelling	Recurrent right subangulomandibular swelling	Right parotid gland swelling
ENT examination	A productive fistula in the floor of the EAC	Subangulomandibularfistula	Subangulomandibularfistula
Imaging	Fistulography: fistulous pathway	Fistulography: fistulous pathway	Ultrasound/CTscan and MRI: acute infectious parotitis
Treatment	Antegrade superficial parotidectomy approach and dissection of fistula cord
Evolution	No facial paralysis or superinfection or recurrence

4. Discussion

The branchial apparatus, consisting of the first to fourth arches, is the embryonic precursor of the mature structures of the face, neck and pharynx. Anomalies of the branchial apparatus are the second most common congenital cervical malformation in children after thyroglossal duct cysts [6].

Only 8 % of all branchial cleft anomalies were first branchial arch anomalies at the Mayo Clinic. Among these, 68 % were cysts, 16 % were sinuses and 16 % were fistulas [2]. Typically, sinus and fistula are more common in infants and children, and cysts are more common in older populations. FBCA is more common among women (69 %) than men (31 %) [2,6]. Branchial anomalies occur as isolated phenomena, as in the present case, but may be familial or, less commonly, associated with other congenital defects [6].

There are two different types of first branchial cleft - type 1 and type 2, based on the anatomical and histological location of the cleft according to the studies of Arnot and Work respectively. In Arnot's type 1 lesion (most common in adults), the sinuses or cysts are located on the parotid gland, whereas in type 2 lesion (most common in children), the lesion occurs in the anterior cervical triangle. Histological classification according to Work, type 1 has only ectodermal components and is the duplication of the membranous external auditory canal parallel to the normal auditory canal, whereas type 2 has ectodermal and mesodermal components and presents as a cyst, a sinus (externally open duct), a fistula with a superior orifice at the level of the bony-cartilaginous junction of the EAC. The inferior orifice of type II lesions (as in our case series) is located in a triangle described by E. Poncet, bounded above by the EAC, anteriorly by the mental region and inferiorly by the hyoid bone [4,7].

It is important to note that although their position in relation to the facial nerve varies, with the nerve above, below or transverse to the lesion, type II anomalies are located above the vascular structures of the neck and digastric muscle [6,7]. A classification of defects as cysts, sinuses or fistulas based on the number of surface openings present has also been introduced by Olsen et al. [4].

Because of its rarity, FBCA is often misdiagnosed and mistreated. Diagnosis can therefore be challenging. To prevent recurrence and avoid damaging the facial nerve, early diagnosis based on a complete history and physical examination, followed by appropriate treatment, is essential. Typically, FBCA is clinically manifested by swelling in the parotid or post-auricular area. There may also be purulent drainage from the EAC. The main physical signs to assess are: communication with the EAC or attachment to the tympanic membrane on otoscopy, the aspect of the skin of the neck that may show signs of a pit or sinus and, most importantly, the function of the facial nerve. In fact, more than any other type of branchial defect, the facial nerve and the first branchial cleft are closely related. This correlation makes the routine use of a Nerve Monitoring Device during surgery essential. Most FBCAs occur in the area of Pochet's triangle, consisting of the EAC, the hyoid body and the angle of the mandible, particularly in the retroauricular groove or the parotid gland region [2,4]. FBCFs were located in Pochet's triangle in all cases in our series.

Congenital ear cysts, preauricular tags and anomalies of the second branchial cleft are in the differential diagnosis in children [7]. In our case, the location of the neck mass, its features and otoscopic findings, as well as fistulographies, sonographies, CT scans and MRI scans of the parotid gland, all helped to establish the diagnosis.

Surgical excision is the definitive treatment once FBC has been diagnosed. Due to the close relationship with the facial nerve, especially in type II, surgery is more challenging and associated with a higher risk of leaving tissue behind and therefore a high chance of recurrence. Even when the facial nerve has been previously identified, a previous study showed a high (22 %) incidence of facial nerve palsy [2,4]. In our series, there was no postoperative facial nerve palsy.

If excision is performed in the acutely inflamed stage, recurrence rates of up to 20 % have been reported. Recurrent infection may cause inflammatory adhesions in the surrounding tissue, making structures difficult to distinguish and increasing the risk of recurrence and facial nerve injury [7,8]. Thus, once the infection has resolved, surgical excision should be considered. Age is another factor influencing surgical management. The anatomy of infants differs from that of older children and adolescents, as reported in previous studies. The facial nerve in younger children is more superficial and delicate than in older children and adults, making surgical treatment more difficult. In addition, younger patients are more likely to have lesions deep to the facial nerve, and the rate of facial nerve injury ranges from 10 to 25 % in pediatric patients undergoing FBCA resection [9]. Therefore, we agree that surgeons should carefully weigh the risks and benefits of surgery in patients younger than 1 year [10].

In most cases of FBCA, a parotidectomy is required to identify the facial nerve and remove the entire tract. Otological complaints are common in patients with FBCA and may require ear surgery such as tympanoplasty or canaloplasty [11]. Additionally, intraoperative methylene blue dye injection can help verify the suspected fistula path, and intraoperative microscopy and facial nerve monitoring are essential to protect the facial nerve. These techniques have the potential to reduce the rate of facial nerve injury and recurrence [4].

5. Conclusion

Congenital malformations of the FBC are entities that an otolaryngologist may encounter in practice. Due to its rarity, FBCF is usually misdiagnosed and mistreated. Knowledge of the embryology of the cervicofacial region, early diagnosis and appropriate treatment, by a complete surgical excision, are necessary to prevent recurrence and facial nerve damage.

Consent

Written informed consent was obtained from the patients for publication of this case report and accompanying images.

A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Ethical approval

Our institution does not require ethical approval for reporting individual cases (We maintained a high level of respect for both anonymity and confidentiality when presenting the patient in our case series.)

Funding

This research did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors.

Author contribution

Malika El Omri: Writing - Reviewing and Editing.

Maroua Naouar: Data curation, Writing - Original draft preparation.

Mouna Bellakhddher: Supervision.

Emna Bergaoui: Visualization, Investigation.

Wassim Kermani: Supervision.

Mohamed Abdelkefi: Supervision.

Guarantor

Malika El Omri.

Research registration number

No.

Conflict of interest statement

No