Branchial Cleft Fistula Research Articles

Endoscopic diagnostic and therapeutic management of branchial cleft fistula type III & IV: a single tertiary centre experience.

To date, recurrent neck abscesses associated with branchial anomalies are treated using a variety of techniques. Management strategies may include various imaging modalities and surgical methods. Endoscopic assessment and electrocauterization are the preferred diagnostic modalities and treatment strategies that have recently gained widespread acceptance and popularity. This was a retrospective review on patients' medical record from 2016 to 2023. Seven patients underwent endoscopic cauterization at our centre, a tertiary academic institution. Five of the patients (71.5%) achieved complete remission. Two patients experienced recurrence within 6 months that necessitated re-cauterization once but subsequently recovered completely. Currently, endoscopic management is the preferred approach compared to the typical open neck excision surgery as it is significantly less invasive, resulting in lesser morbidity and similar success rates. At presentation, all of them had ultrasound neck that suggestive of neck abscess. Computed tomography or magnetic resonance imaging unable to provide adequate information about the side of internal opening of fistula where only 3 out of 7 patients demonstrated tract up to the ipsilateral region of pyriform fossa. Management outcomes of this limited case series showed the potential benefits of endoscopic cauterization as the minimally invasive therapeutic method for recurrent neck abscesses caused by third and fourth branchial cleft fistulas but also to suggest the possibility as the first diagnostic tool prior to imaging studies.

Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants

Objective:To investigate the clinical phenotype of a family with branchio-oto syndrome （BOS） and to explore the genetic etiology of the syndrome in this family. Methods:Clinical data were collected from a child diagnosed with BOS and his family members. Genomic DNA was extracted from peripheral blood of the proband and his family members. Whole-exome sequencing was performed, and the mutation sites were verified and analyzed by Sanger sequencing. Results:The family consists of two generations with four members, three of whom exhibit the phenotype. Two members have hearing loss and bilateral preauricular fistulas and bilateral branchial cleft fistulas. One member has bilateral preauricular fistulas and bilateral branchial cleft fistulas. All of which were in line with the clinical diagnosis of gill ear syndrome, the inheritance mode of the family was autosomal dominant inheritance, genetic testing showed that all members of the family had c. 1744delC（p. L592Cfs*47） mutation in the EYA1 gene, while unaffected members have the wild-type allele at this locus. This mutation is a frameshift mutation, which results in the early appearance of the stop codon, and has not been reported so far. According to ACMG guidelines, the variant was preliminarily determined to be suspected pathogenic. Conclusion:The newly discovered EYA1c. 1744delC（p. L592Cfs*47） mutation in this family is the pathogenic mutant gene of the patients in this family, which further expands the mutation spectrum of EYA1 gene, gives us a new understanding of the disease, and provides an important reference for clinical diagnosis and genetic counseling.

Clinical Analysis of 76 Cases of Second Branchial Cleft Fistula.

Objective: To provide the experience of diagnosis and treatment of second branchial cleft fistula in children. Methods: The clinical data of 76 children with second branchial cleft fistulas admitted to Beijing Children's Hospital affiliated with Capital Medical University from January 2016 to December 2020 were retrospectively analyzed. All patients underwent cervical ultrasonography and resection of the second branchial cleft fistula, and their clinical manifestations, surgical methods, complications, recurrence condition, and lesion appearance of the patients were analyzed. Results: Among the 76 cases, the lesions of 43 cases were on the right side, 20 were on the left side, and 13 were bilateral, for a total of 89 lesions. There were 49 type I lesions, 28 type II lesions, 8 type III lesions, and 4 type IV lesions. Type I and type II cases underwent complete excision of the fistula through a small incision in the neck; 2 cases of type III branchial cleft fistulas were treated with trapezoidal incision; 2 cases of type III branchial cleft fistulas underwent single transverse incisions; single small incision-assisted endoscopic resection was adopted in 4 cases of type III and 4 cases of type IV branchial cleft fistulas. During the follow-up period of 6 to 60 months, only 3 cases developed postoperative infection, the others had no postoperative complications, and no cases had recurrence during postoperative follow-up. Conclusion: The incision of the second branchial fistula should be selected according to imaging examination to achieve removal of the fistula while maintaining esthetics.

Management of a recurrent third branchial arch fistula using combined endoscopic and open approach

Branchial cleft anomalies are rare, congenital lesions, that occur due to the maldevelopment of the branchial apparatus, during fetal maturation. Anomalies of the third and fourth arch contribute to a very small proportion of these. Most cases are detected in childhood, either as a cyst, sinus or fistula in the neck. Some of the common treatment approaches to third branchial cleft fistulas include endoscopic cauterization, open cervical fistulectomy and, in cases of recurrence, selective neck dissection. Here, we present a case of recurrent branchial fistula of the third arch, wherein we used a combined cervical and intraoral approach, conserving the thyroid cartilage, to achieve a complete excision of the fistula tract.

Indocyanine Green (ICG) Fluorescence-Assisted Open Surgery Using the Rubina® Lens System in the Pediatric Population: A Single-Center Prospective Case Series.

There are scarce papers about the use of fluorescence-guided surgery (FGS) in the open surgical field. This study aimed to assess the usefulness of FGS in an open setting in the pediatric population and to report our preliminary experience using the Rubina® Lens system. All patients undergoing ICG fluorescence-assisted open surgery over the period September 2022-September 2023 were enrolled. Each surgical procedure was performed using the Rubina® Lens for ICG fluorescence visualization. A total of 25 patients, 14 boys and 11 girls with a median age at surgery of 5.8 years-old (range 0-15), were enrolled. Surgical indications were dermoid/epidermoid cysts of the head (n = 7), lymphangiomas of the head/neck (n = 2), thyroglossal duct cysts (n = 7), gynecomastia (n = 3), preauricular fistula (n = 2), second branchial cleft fistula (n = 1), fibrolipoma of the shoulder (n = 1) and myofibroma of the gluteal/perineal region (n = 2). In all procedures, an intralesional injection of 2.5 mg/mL ICG solution using a 30-gauge needle was administered. No adverse reactions to ICG occurred. Median operative time was 68.6 min (range 35-189). The visualization of ICG-NIRF with the Rubina® Lens was achieved in all cases. No intraoperative complications were reported. Postoperative complications occurred in 3/25 patients (12%), with gynecomastia (n = 1), thyroglossal duct cyst (n = 1) and neck lymphangioma (n = 1), who developed a fluid collection in the surgical site, requiring needle aspiration in outpatient care (Clavien-Dindo 2). Complete mass excision was confirmed with pathology reports. Based on this initial experience, FGS using the Rubina® Lens was very helpful in open surgery, providing enhanced visualization of anatomy and identification of margins, real-time reliability and low complication rate. It was easy to use, time saving, feasible and clinically safe. Previous experience in MIS is necessary to adopt this technology. The accuracy of the injection phase is important to avoid diffusion of the ICG into the perilesional tissue.

Doxycycline sclerotherapy in paediatric branchial cleft sinus

Branchial cleft anomalies are the second most common head and neck lesion in children after thyroglossal cyst. They are congenital lesions resulting from improper involution of the branchial apparatus. The most common treatment of choice is surgical excision, which gives a good outcome. Nevertheless, there has been recent literature exploring sclerosant therapy as a viable alternative to nonsurgical treatment. We present the case of a seven-year-old girl with first branchial cleft cyst who presented with recurrent serous discharge persisting for four years and was successfully treated with sclerotherapy injection with doxycycline.

Type-I Branchial Cleft Fistula, A Rare Incidence: Treated with Surgical Excision

Type-I Branchial Cleft Fistula, A Rare Incidence: Treated with Surgical Excision

Complete Second Branchial Cleft Fistulas: A Clinicosurgical Experience.

A complete second branchial fistula is very rare and has an internal opening at the tonsillar fossa and an external opening at the lower third of the sternocleidomastoid (SCM). Patients commonly present with persistent or intermittent mucoid or mucopurulent discharge from an external opening. The diagnosis is most often clinical and radiological investigations are rarely needed. Treatment of choice is complete surgical excision. The aim of this article is to aware young ENT surgeons of the various clinical and intraoperative surgical findings that can be encountered while dealing with these cases. This observational study was done for a period of 10years. A total of 20 cases of fistula were included which intraoperatively had a complete track from tonsillar fossa to neck. Excision of the tract was carried out via combined transcervical and transoral approach under general anaesthesia using two incisions in stepladder pattern. Each patient was seen after one year of surgery to assess for any recurrence. Different findings of patients including age/sex at surgery, initial presentation, family history, laterality of the fistula tract, Intraoperative surgical findings, complications, and recurrences. were noted. Of the 20 patients, 13 (65%) were females and 7 (35%) were Females. Most common complaint was fistulous opening with intermittent discharge(15patients; 75%).Branchial cleft fistulae more commonly affected the right neck (14 patients, 78%) among unilateral cases and 2 patients (10%) had bilateral fistulae. No patient had associated congenital anomaly/syndrome, family history or and visible opening in tonsillar area. Glossopharyngeal nerve was identified in 12 cases and track was seen passing lateral to it except in one case. The internal opening of track was seen over posterior tonsillar pillar in 15 cases (75%) while in 5 patient the track was seen entering tonsillar tissue or bed. Tonsillectomy was done in 5 cases while not done in 15 cases where track was seen entering posterior pillar. All patients were seen at one year follow up. No recurrence was seen at one year of follow up. Complete second branchial cleft fistulae are rare. They are usually right sided and unilateral. The track passes between carotid bifurcation and invariably passes lateral to both glossopharyngeal and hypoglossal nerves. Track usually ends at the posterior tonsillar pillar. Tonsillectomy is not routinely indicated. Recurrences are not typically seen.

Branchio-oto-renal syndrome or branchio-oto syndrome: the clinical and genetic analysis in five Chinese families

Objective: To screen the causative genes of five families with branchio-oto-renal syndrome (BORS) or branchio-oto syndrome(BOS) and to analyze the phenotypic characteristics and clinical management strategies of patients. Methods: Five families with BORS/BOR from December 2018 to September 2021 were recruited, information of patients, including family history and medical history, was collected, and genealogies were drawn. The examinations concerning audiology, nephrology, and radiology were performed on the affected individuals. Peripheral blood was obtained for DNA extraction, then next-generation sequencing technology was used to screen candidate variants associated with BORS/BOS. Based on patient's clinical results, the appropriate interventions were recommended and implemented. Results: Eight individuals were diagnosed with BOS or BORS. Of the eight patients, all had hearing loss, preauricular pits and ear malformations, and only four presented with branchial cleft fistulae or cysts. Except for two patients(5-I-2, 5-II-2) who did not undergo renal examination, the remaining six lacked renal abnormalities. Genetic analysis identified four likely pathogenic or pathogenic EYA1 variants (c.1715G>T, c.1140+1G>A, c.639G>C, c.1475+1G>C; NM_000503.6), and c.1715G>T was first reported in this study. Middle ear ossicular reconstruction was performed in 1-II-2,2-I-2 and 3-II-2, but did not yield the expected results; then hearing aids and cochlear implantation were recommended and achieved satisfactory results. Conclusions: Next-generation sequencing technology facilitates the diagnosis and genetic counseling of BORS/BOS. Hearing loss, preauricular pits, ear malformations and branchial cleft fistulae or cysts are the most common manifestations of patients in this study. Middle ear surgeries for improving hearing loss may have some limitations in BORS/BOS patients, and hearing aids and cochlear implantation can contribute to hearing gains.

Clinical features, diagnosis and treatment for patients presenting with granulation tissue of the external auditory canal

Objective:To explore the clinical characteristics and diagnosis and treatment in the patients presenting with granulation tissue of the external auditory canal. Methods:The data of 71 postoperative patients presenting with granulation tissue of the external auditory canal in the Department of Otolaryngology, the First Affiliated Hospital of the Air Force Military Medical University from January 2015 to June 2020 were analyzed retrospectively, including the chief complaint, physical examination, auxiliary examination and preoperative imaging, biopsy was performed when necessary to confirm the diagnosis. Among the 71 patients, 30 cases were diagnosed as chronic otitis media, 19 cases were external auditory canal cholesteatoma, 5 cases were external auditory canal carcinoma, 6 cases were paraganglioma, 1 case was granulomatous hemangioma, 1 case was first branchial cleft fistula, 4 cases were granuloma of the external auditory canal, 4 cases were hemangioma of the external auditory canal, and 1 case was foreign body of the external auditory canal. Individualized treatment plans are made according to the characteristics and extent of the lesions. Results:Postoperative follow-up was 12 to 74 months, with an average of （44±18.1） months. Seventy patients（98.6%） had no complications such as sensorineural deafness, external auditory stenosis or peripheral facial paralysis after surgery, and one patient with paraganglioma had postoperative neurological function grade Ⅱ, and was treated with nutritional nerves, and the postoperative neural function recovered to grade Ⅰ after 3 months. Conclusion:The patients presenting with granulation tissue of the external auditory canal can be diagnosed as various diseases. It is necessary to analyze the patient's medical history in detail, confirm the diagnosis in combination with imaging examination, and formulate an individualized treatment plan to reduce misdiagnosis and missed diagnosis.

Fourth branchial cleft anomaly in a 7-month-old infant: A case report and literature review.

Fourth branchial cleft anomalies are rare head and neck congenital lesions seen in children. They present as a neck inflammatory mass and arise essentially on the left side of the neck. We report the case of a 7-month-old female with a mass of the neck associated with respiratory distress. The mass was diagnosed as an incomplete fourth branchial cleft fistula. Surgical revision of the neck abscess from an external approach and plasma coblation of the orifice in the pyriform fossa by an endoscopic approach were performed.

A Case of First Branchial Cleft Fistula with Tympanic Membrane Anomaly

A Case of First Branchial Cleft Fistula with Tympanic Membrane Anomaly

Mini-incision with endoscope-assisted surgery for bilateral congenital second branchial cleft fistula and a pedigree report

Objective: To investigate the feasibility and efficacy of mini-incision with endoscope-assisted resection for bilateral congenital second branchial cleft fistula, and to report on a rare pedigree. Methods: The clinical data of 5 patients with bilateral congenital second branchial fistula admitted in Fujian Provincial Hospital from April 2007 to December 2018 were retrospectively reviewed, including 2 males and 3 females, aged from 3 to 31 years old. The surgical strateges and clinical experience of single mini-incision with endoscope-assisted fistulectomy were summarized, and a rare pedigree was reported. Results: In five patients, Case 1 to Case 4 were treated with bilateral endoscopic-assisted fistula high ligation with titanium clips and removal through a single small incision under general anesthesia. No obvious complications occurred after the operation. The patients were followed up for 40-164 months with no fistula recurrence. Case 5 gave up surgical resection and was followed up for 24 months with acute infection attack once. Case 2 and Case 4 came from the same family. In this family, 7 out of 31 members of four generations had second branchial cleft fistulas, of which 4 were bilateral and 3 were right. Pedigree analysis was consistent with autosomal dominant inheritance. No deafness, preauricular tag, external and middle ear deformity and kidney malformation were found in the family members. Conclusions: Bilateral congenital second branchial cleft fistula is rare. Surgical resection is the preferred treatment. Mini-incision with endoscopic-assisted fistula high ligation with titanium clip and resection has clear operative field, ideal cosmetic effect and definite curative effect.

First Branchial Cleft Sinus

First Branchial Cleft Sinus

Patho-Anatomic Spectrum of Branchial Cleft Anomalies: Proposal of Novel Classification System

Histogenesis, nomenclature, and classification of branchial cleft anomalies (BCAs) have been subjects of controversy for decades. The purpose of this study was to investigate the accuracy of current developmental theories (congenital, lymph node, and hybrid branchial inclusion theories) in defining the anatomic and histopathological characteristics of BCAs. Ninety consecutive patients with BCAs who underwent surgical excision were enrolled in this 2-center retrospective cohort study. The present study included 90 patients: 46 (51.11%) women and 44 (48.89%) men (P > .05). The mean age at presentation was 31.89±17.31 years. Altogether, 92 BCAs were identified within the study population including 49 (53.26%) on the left side and 43 (46.74%) on the right side (P > .05). The BCAs included 79 (85.87%) branchial cleft cysts, 11 (11.96%) branchial cleft sinuses, and 2 (2.17%) branchial cleft fistulae. Three (3.26%) BCAs were distributed in the head regions, 88 (95.65%) in the neck regions, and 1 (1.09%) in the thoracic cavity. Following surgery, lymphoepithelial tissue was detected in the histopathological examination in 83 (90.22%) BCAs. The hybrid branchial inclusion theory exhibited significantly higher accuracy in defining patho-anatomic characteristics of BCAs than the branchial apparatus, precervical sinus, thymopharyngeal, and inclusion theories (90.22, 9.78, 2.17, 0.00, and 0.00%; respectively) (P < .05). The novel branchial node (BN) classification system based on the hybrid branchial inclusion theory appears to be superior to other classification systems in determining the patho-anatomy of BCAs.

First branchial cleft fistula: a case report and literature review

BackgroundFirst branchial cleft fistula is a rare malformation of the neck and head. The purpose of this report is to showcase a method of treating first brachial cleft fistula while preserving the facial nerve.Case presentationThis case report presents an 8-year-old female with a type 2 first branchial cleft fistula. The treatment process follows multidisciplinary approach with the aid of health professionals from different departments, pre-op magnetic resonance imaging (MRI) scanning to map the fistula, and the use of nerve monitoring device (NIM).ConclusionThe procedure was successfully done while preserving the facial nerve.

Endoscopic combined transcervical-transoral second branchial fistulectomy: A novel technique with prospective case series

ObjectivesTo describe and assess a novel technique of complete endoscopic combined transcervical-transoral fistulectomy (ECCOF) in the management of pediatric complete second branchial cleft (BC) fistula tracts (SBCFTs). MethodsA prospective single-center consecutive case series of SBCFTs was designed. Course and angles of inclination of the tract towards the pharyngeal wall were assessed using CT fistulography. Complete endoscopic fistulectomy was performed using three levels of dissection via ECCOF. Technique, advantages, complications and recurrences were assessed. ResultsFive children with a mean age of 4.1 ± 0.96 years and seven SBCFTs were included. Four were left-sided fistulae (57.2%), while three were right-sided fistulae (42.8%). The average angle of deep inclination of the fistula tracts between the first and second parts of the fistula tracts (at the carotid bifurcation) was 143.57 ± 10.92°. Complete visualization with safe dissection in all three levels of ECCOF was obtained for all fistulae. No recurrence or complications were observed with an average follow-up of 35.85 ± 22.13 months. ConclusionEndoscopic management of SBCFTs appears to be effective and safe. It avoids the prerequisite for wide or double incisions and enables an excellent view of the surrounding structures, which leads to fewer complications and recurrences.

Branchial cleft anomalies: hybrid "Branchial Inclusion" theory.

Branchial cleft anomalies (BCAs) are developmental malformations of the head and neck region. Their histogenesis has been the subject of controversy and is not fully understood. This study aimed to test all present developmental theories ("branchial apparatus," "precervical sinus," "thymopharyngeal," and "inclusion" theories) on a sample of 48 BCAs from a single institution. We performed a retrospective analysis of clinical-epidemiological and anatomical-pathological characteristics of BCAs treated over a 12-year period in our hospital. Overall, 46 patients (24 [52.17%] women and 22 men [47.83%]) underwent surgical excision of 48 BCAs. The mean patient age at presentation was 31.65 ± 19.40years. Branchial cleft cysts were found in 42 (87.50%) cases, and branchial cleft sinuses were found in six (12.50%) cases. Eight (16.67%) BCAs were distributed in the preauricular region, 34 (70.83%) at the anterior border of the sternocleidomastoid muscle (SCM), three (6.25%) at the posterior border of the SCM, two (4.17%) in the suprasternal notch, and one (2.08%) in the retrosternal space. Histopathologically, 39 (81.25%) BCAs had a lymphoepithelial structure and nine (18.75%) BCAs had solitary epithelial cells. Inflammation and infection were observed in 24 (50%) and 12 (25%) cases, respectively. None of the hypothesized developmental theories fully explain the embryonic origin of BCA in our study sample. A possible explanation of BCA histogenesis is through the hybrid "branchial inclusion" theory.

神経モニタリング装置を用いて安全に摘出した第一鰓裂性瘻孔の 1 例

神経モニタリング装置を用いて安全に摘出した第一鰓裂性瘻孔の 1 例

First branchial cleft fistula: a case report

&lt;p class="abstract"&gt;First branchial cleft anomalies (BCA) are a rare finding in head and neck with incidence nearly- incidence of nearly 1 million per year which are distributed below external auditory canal, above the hyoid bone, anterior to sternocleidomastoid and posterior to submandibular triangle. First branchial cleft cysts are frequently misdiagnosed as they are rare and pose unfamiliar clinical signs and symptoms. Here we are reporting a case of surgical management of 1st branchial cleft fistula in a 5 years old male child from AIIMS, Raipur, Chhattisgarh, India as it’s a rare entity. Child presented with discharge from right upper part of neck. There was a swelling in right upper lateral part of neck with an opening also in floor of right external auditory canal (EAC). Contrast enhanced computed tomography of neck showed a 4.8 cm long obliquely oriented fistulous tract opening at junction of middle and upper one third of sternocleidomastoid with opening in right EAC. Surgical excision of the fistulous tract was done with preservation of facial nerve. Histopathology examination confirmed the presence of fistula. Common clinical presentation of BCAs is pre-auricular swelling (24%), parotid swelling (36%) or cervical region swelling (41%). In our case, it was a fistulous opening that presented as discharging tract in upper neck. Management include early diagnosis, control of infection and complete excision with facial nerve preservation Surgical approach should be based on the clinical examination, imaging and clinical course; and there is a need to safely identify and preserve facial nerve in almost all cases.&lt;/p&gt;