First branchial cleft anomaly

A first branchial cleft anomaly is an unusual clinical condition and the clinical picture is similar to that seen in other much more common diseases. This combination may result in a diagnostic delay and insufficient and dangerous primary surgery, resulting in facial nerve damage. This paper reviews the embryological background of first branchial cleft anomalies, the varying clinical presentation and the surgical treatment, illustrated by three case histories. A revision of the most common classification system is proposed.     

Case report: a branchial cleft anomaly presenting as an oropharyngeal mass

Branchial anomalies are common cervical pathologic entities encountered in the field of otolaryngology and are typical in the pediatric and young adult populations. In most cases, these anomalies present as a cyst, sinus, or fistula in a rather stereotypical fashion. When a branchial anomaly deviates from the classic presentation, an improper diagnosis and inadequate management are more likely to occur, leading to an increased recurrence rate. We present a case of a 6-year-old girl with an incidental finding of a right posterior oropharyngeal wall mass, distinctly separate from the tonsillar fossa, which was found on pathologic analysis to be a branchial cleft anomaly. The theories regarding the pathogenesis of branchial anomalies are presented, along with other cases of atypical branchial anomalies.     

Anatomical variations of the facial nerve in first branchial cleft anomalies

OBJECTIVE: To review our experience with branchial cleft anomalies, with special attention to their subtypes and anatomical relationship to the facial nerve. STUDY DESIGN: Case series. SETTING: Tertiary care center. PATIENTS: Ten patients who underwent resection for anomalies of the first branchial cleft, with at least 1 year of follow-up, were included in the study. The data from all cases were collected in a prospective fashion, including immediate postoperative diagrams. INTERVENTION: Complete resection of the branchial cleft anomaly was performed in all cases. Wide exposure of the facial nerve was achieved using a modified Blair incision and superficial parotidectomy. Facial nerve monitoring was used in every case. MAIN OUTCOME MEASURES: The primary outcome measurements were facial nerve function and incidence of recurrence after resection of the branchial cleft anomaly. RESULTS: Ten patients, 6 females and 4 males,with a mean age of 9 years at presentation, were treated by the senior author (P.J.K.) between 1989 and 2001. The lesions were characterized as sinus tracts (n = 5), fistulous tracts (n = 3), and cysts (n = 2). Seven lesions were medial to the facial nerve, 2 were lateral to the facial nerve, and 1 was between branches of the facial nerve. There were no complications related to facial nerve paresis or paralysis, and none of the patients has had a recurrence. CONCLUSIONS: The successful treatment of branchial cleft anomalies requires a complete resection. A safe complete resection requires a full exposure of the facial nerve, as the lesions can be variably associated with the nerve.     

An undescribed first branchial cleft anomaly

A variant of a type 2 first branchial cleft anomaly, in which accessory ossicles were found, is described. There follows a discussion of the classification of first branchial cleft abnormalities and how this particular case falls outside the standard classification. CT scanning is mentioned as the investigation that is most useful for defining these abnormalities.     

Second branchial cleft sinus presenting after adenotonsillectomy

Branchial cleft sinuses are one of the more common congenital defects arising in the head and neck region. Second branchial cleft anomalies are the commonest of the true branchial cleft defects and the diagnosis is usually straightforward. We report the case of an atypical presentation of branchial cleft sinus that manifested after adenotonsillectomy. To our knowledge this is the first reported case of a second branchial cleft sinus presenting only after adenotonsillectomy. The sinus was excised with no recurrence of symptoms at 12 months of follow-up.     

Branchial cleft fistula with heterotopic salivary gland tissue in the lower neck

A rare case of second branchial fistula with heterotopic salivary gland tissue in the lower neck is described. The patient was a 12-year-old girl with a fistula which appeared to be clinically a second branchial cleft anomaly. It was removed from her neck. Histological examination revealed that the lesion was a branchial cleft fistula with elements of salivary gland tissue.     

Cystic metastasis versus branchial cleft carcinoma: a diagnostic challenge

OBJECTIVES: There is controversy regarding the existence of branchial cleft carcinomas. The objectives are to familiarize the clinician with the presentation and treatment of cystic metastases from head and neck primary sites and differentiate these from primary branchial cleft cyst carcinomas. STUDY DESIGN: Retrospective case study and literature review. METHODS: Published reports of branchial cleft carcinomas were reviewed in conjunction with a unique case presenting at the University of Texas Medical Branch (Galveston, TX). RESULTS: Most cases of branchial cleft carcinomas are probably cystic metastases from head and neck primary sites. Cutaneous involvement with primary branchial cleft carcinomas is rare but may occur in recurrent lesions. CONCLUSIONS: The diagnosis of a primary branchial cleft cyst carcinoma requires the fulfillment of strict criteria. Cystic metastases from head and neck primaries can mimic branchial cleft carcinomas histologically. Correct diagnosis is important so that appropriate surgical and radiotherapeutic treatment can be delivered.     

Branchial anomalies in children

Background

Branchial cleft anomalies are the second most common head and neck congenital lesions seen in children. Amongst the branchial cleft malformations, second cleft lesions account for 95% of the branchial anomalies. This article analyzes all the cases of branchial cleft anomalies operated on at Great Ormond Street Hospital over the past 10 years.

Methods

All children who underwent surgery for branchial cleft sinus or fistula from January 2000 to December 2010 were included in this study.

Results

In this series, we had 80 patients (38 female and 42 male). The age at the time of operation varied from 1 year to 14 years. Amongst this group, 15 patients had first branchial cleft anomaly, 62 had second branchial cleft anomaly and 3 had fourth branchial pouch anomaly. All the first cleft cases were operated on by a superficial parotidectomy approach with facial nerve identification. Complete excision was achieved in all these first cleft cases. In this series of first cleft anomalies, we had one complication (temporary marginal mandibular nerve weakness. In the 62 children with second branchial cleft anomalies, 50 were unilateral and 12 were bilateral. In the vast majority, the tract extended through the carotid bifurcation and extended up to pharyngeal constrictor muscles. Majority of these cases were operated on through an elliptical incision around the external opening. Complete excision was achieved in all second cleft cases except one who required a repeat excision. In this subgroup, we had two complications one patient developed a seroma and one had incomplete excision. The three patients with fourth pouch anomaly were treated with endoscopic assisted monopolar diathermy to the sinus opening with good outcome.

Conclusion

Branchial anomalies are relatively common in children. There are three distinct types, first cleft, second cleft and fourth pouch anomaly. Correct diagnosis is essential to avoid inadequate surgery and multiple procedures. The surgical approach needs to be tailored to the type of anomaly of origin of the anomaly. Complete excision is essential for good outcomes.     

Third branchial cleft anomaly presenting as a retropharyngeal abscess

Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.     

Congenital midline cervical cleft: a report of 3 cases

Congenital midline cervical cleft is a rare anomaly of the anterior neck. The diagnosis is typically made on the basis of the lesion's characteristic clinical presentation at birth. It appears to occur as a result of a failure of fusion of the paired second branchial arches in the midline during embryogenesis. Surgical intervention is necessary to avoid potential long-term complications, such as contractures and limitation of neck mobility. We present 3 cases of congenital midline cervical cleft, and we discuss the embryology, presentation, and surgical management of this unusual condition.     

Unusual extension of the first branchial cleft anomaly

First branchial cleft is the only branchial structure that persists as the external ear canal, while all other clefts are resorbed. Incomplete obliteration and the degree of closure cause the varied types of first branchial cleft anomalies. They were classified based on the anatomical and histological features. We present an unusual type of first branchial cleft anomaly involving the external auditory canal, the middle ear and the nasopharynx through the eustachian tube.     

87例鳃裂畸形临床特征分析

目的 总结鳃裂畸形患者的临床特点,探讨其临床诊疗方案。方法 收集2000年1月—2022年9月确诊为鳃裂畸形的87例患者的临床资料并结合文献进行回顾性分析。结果 本组患者中,第一鳃裂畸形患者10例,第二鳃裂畸形患者52例,第三鳃裂畸形患者20例,第四鳃裂畸形患者5例。15例患者有过相关颈部手术史。所有患者均采取手术治疗,仅1例出现暂时性面神经麻痹,术后3个月恢复。随访6个月至16年,81例患者完成术后随访。6例患者术后出现复发,再次行颈部肿物切除术+等离子梨状窝瘘口封闭术,随访7~8年均未再复发。结论 先天性鳃裂畸形诊断较为困难且相对容易复发,术前结合多种检查可提高诊断准确性,手术彻底切除病灶是首选治疗方案,急性感染期患者先予以颈部清创,待稳定期再行手术切除可以降低术后复发率。     

Primary parotid lymphoma presenting as a recurrent cystic mass: A case report

A 15‐year‐old boy was diagnosed with a cystic parotid mass, which was initially thought to be a first branchial cleft cyst. The mass was treated with antibiotics and fully resolved on examination and imaging. The mass returned, and a superficial parotidectomy was performed to remove the suspected branchial cleft cyst. Final pathology demonstrated a B‐cell lymphoblastic lymphoma. Bilateral bone marrow biopsies and peripheral blood counts were negative for any malignancy. This case demonstrates a rare presentation of primary parotid B‐cell lymphoblastic lymphoma that began as a fluctuating cystic parotid mass consistent in appearance with a first branchial cleft cyst. Laryngoscope, 128:998–1001, 2018     

The double auditory meatus--a rare first branchial cleft anomaly: clinical presentation and treatment

OBJECTIVE: To discuss the embryology, classification, clinical experience with, and management of first branchial cleft anomalies. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Patients with a first branchial cleft anomaly. INTERVENTION: Surgery or revision surgery. MAIN OUTCOME MEASURES: Classifications according to Work, Olsen, Chilla; previous diagnostic and therapeutic pitfalls; outcome of intervention (including facial nerve function). RESULTS: Between 1984 and 1999, first branchial cleft anomalies were diagnosed in 18 patients. Surgical treatment was the treatment of choice. The authors' approach in Work type I and type 2 lesions is described, and surgical aspects of revision surgery are discussed. The importance of early establishment of the relationship of the anomaly to the facial nerve is stressed. In 8 patients, previous surgical attempts had been undertaken without establishment of the diagnosis first. After intervention, the outcome was favorable. CONCLUSIONS: First branchial cleft anomalies occur sporadically in ordinary clinical practice. They may go unrecognized or may be mistaken for tumors or other inflammatory lesions of in the periauricular region. However, the distinct clinical features, which can be derived from embryologic development, usually lead to the correct diagnosis. This avoids both treatment delay and eventual failure.     

A new role for computed tomography in the diagnosis and treatment of pyriform sinus fistula

Neck abscess located in or around the thyroid gland should raise the suspicion of acute suppurative thyroiditis, pyriform sinus fistula, a 3rd or 4th branchial cleft anomaly. Differentiating between these entities on a clinical basis is difficult. After treating the initial infection, computed tomography, barium esophagography, ultrasound, and endoscopy can be used in search of the fistulous tract that can be associated with a pyriform sinus fistula or a 3rd or 4th branchial anomaly. We present a case of a pyriform sinus fistula involving the use of oral contrast, combined with computed tomography, to delineate the tract and its surrounding structures. This method, in combination with endoscopy, aided in the removal of this branchial anomaly.     

Fourth branchial pouch sinus: A case report

The fourth branchial pouch sinus is a very rare developmental anomaly; it usually presents as a recurring abscess in the left side of the neck. A high index of suspicion, combined with Barium swallow and computed tomography scan, aids in diagnosis. A case of branchial pouch anomaly is reported here for its rarity and late presentation. Complete excision of the entire epithelial tract combined with ipsilateral thyroid lobectomy remains the mainstay of management.     

Third branchial cleft sinus route of infection in deep neck abscesses

Several recent articles have described a third branchial cleft sinus as a route of infection in deep neck abscess. This article describes two children whose presentation and clinical course were secondary to a third branchial cleft sinus.     

Bilateral first and second branchial cleft fistulas: a case report

Branchial cleft anomalies--which include branchial cysts, sinuses, and fistulas--are uncommon developmental defects of the neck. Approximately 2 to 3% of cases are bilateral; bilateral presentations appear to have a familial component. Only 5 cases of bilateral branchial cleft fistulas have been reported in the English-language literature, and only 1 case of simultaneous first and second branchial cleft fistulas has been previously reported. We report what to the best of our knowledge is the second case of bilateral first and second branchial cleft fistulas.