Branchial Anomalies Research Articles

Branchial anomalies: diagnosis and management.

Objective. To find out the incidence of involvement of individual arches, anatomical types of lesions, the age and sex incidence, the site and side of predilection, the common clinical features, the common investigations, treatment, and complications of the different anomalies. Setting. Academic Department of Otolaryngology, Head and Neck Surgery. Design. A 10 year retrospective study. Participants. 30 patients with clinically proven branchial anomalies including patients with bilateral disease totaling 34 lesions. Main Outcome Measures. The demographical data, clinical features, type of branchial anomalies, and the management details were recorded and analyzed. Results and Observations. The mean age of presentation was 18.67 years. Male to female sex ratio was 1.27 : 1 with a male preponderance. Of the 34 lesions, maximum incidence was of second arch anomalies (50%) followed by first arch. We had two cases each of third and fourth arch anomalies. Only 1 (3.3%) patients of the 30 presented with lesion at birth. The most common pathological type of lesions was fistula (58.82%) followed by cyst. 41.18% of the lesions occurred on the right side. All the patients underwent surgical excision. None of our patients had involvement of facial nerve in first branchial anomaly. All patients had tracts going superficial to the facial nerve. Conclusion. Confirming the extent of the tract is mandatory before any surgery as these lesions pass in relation to some of the most vital structures of the neck. Surgery should always be the treatment option. injection of dye, microscopic removal and inclusion of surrounding tissue while excising the tract leads to a decreased incidence of recurrence.

Residual fistula of fourth branchial arch anomalies and recurrent left-side cervical abscess: clinical case and review of the literature.

Congenital fourth branchial arch anomalies are uncommon entities. Most of these anomalies are diagnosed in childhood. The majority of cases occur on the left side. The clinical presentation of these anomalies varies with age. A respiratory distress is the usual clinical presentation in neonates, cervical cutaneous fistulas in late childhood or acute suppurative thyroiditis. Multiples diagnostic options have been described with different modalities of treatment. The majority of cases of fourth branchial arch anomalies are described only in case reports. We report a clinical case of recurrent cervical abscess in a young woman due to a residual fistula of fourth branchial arch.

4th Branchial Cleft Cyst Anomaly: Case Presentation

4th Branchial Cleft Cyst Anomaly: Case Presentation The human branchial apparatus is composed of six paired mesodermal arches, separated by endodermal and ectodermal invaginations known as pouches and clefts, respectively. Error in obliteration of a pouch or groove may create a sinus, fistula or a cyst. Approximately 95% of congenital anomalies of the branchial apparatus involve the second arch, pouch or cleft, while the remaining mostly arise from the first and third arches. Fourth branchial involvement is extremely rare with only few cases published in the English literature. In this report we will emphasize the working dilemma in establishing the correct diagnosis of fourth branchial cleft cyst. Diagnostic tools and appropriate treatment will be addressed as well.

A Case of Branchio-oto-renal Syndrome

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial anomalies: ear malformation, hearing loss, cervical fistula, and renal anomalies. We experienced a case of BOR syndrome. A 16-year-old female had bilateral preauricular pits, bilateral hearing loss, left cervical fistula, and right renal aplasia. Computed tomography revealed inner ear anomalies with cochlear hypoplasia and an enlarged internal auditory meatus. We treated left cervical fistula only in this case. As the rate of improvement in hearing loss by surgical treatment such as tympanoplasty is not necessarily high, we should decide the indication for surgery carefully.

Branchial Fistulas—A Rare Entity in Pediatric Otorhinolaryngology: Current Management Protocols and Review of Literature

ABSTRACTBackground/objectivesSurgical managements which form the mainstay of these branchial apparatus anomalies are based on accurate understanding of the embryology and surgical anatomy. The conspicuous scarring in the young which becomes conspicuous as the age advances are reduced by newer approaches, the facelift approach, retroauricular approach and endoscope-assisted neck approach.Case reportA retrospective case series analysis of eight patients with complete fistula managed by the combined trans cervical approach. The recurrence was nil, with good surgical access and minimal scar at the incision site.ConclusionCombined transcervical approach is the conventional procedure of choice for branchial fistulas. While retroauricular hairline incision (RAHI) approach and endo-scopic approaches need expertise and more instrumentation, meticulous cosmetic surgery techniques helps reduces scars of the transcervical approach.How to cite this articleBhat RS, Naik SM, Goutham MK, Bhat S, Appaji M, Chidananda KV, Devi NP, Joseph S, Nayak P. Branchial Fistulas—A Rare Entity in Pediatric Otorhinolaryngology: Current Management Protocols and Review of Literature. Int J Head Neck Surg 2014;5(3):108-111.

Branchial arch anomalies: need for early diagnosis

Branchial fistula and similar anomalies may present in childhood; the diagnosis may not be obvious at initial presentation. The treatment is by surgical exploration and excision. Misdiagnosis results in recurrence and considerable morbidity. This case report is an example of a missed left branchial fistula which was later managed successfully.

Management of third branchial pouch anomalies – An evolution of a minimally invasive technique

ObjectivesThe management of third branchial pouch anomalies has evolved in recent times with the popularisation of the endoscopic diathermy technique to sclerose the pyriform fossa sinus opening. We present our experience in managing 3 children with third branchial pouch anomalies and propose a minimally invasive management algorithm avoiding open neck surgery. MethodsRetrospective case review of 3 patients including demographics, mode of presentation, investigations, management and complications. ResultsThree children, two male and one female of mean age 9.6 years presented with painful left anterior neck swelling. Axial neck imaging showed a superficial abscess with air locules and a sinus tract leading towards the left pharynx. Diagnosis was confirmed by endoscopic examination of the pyriform fossa revealing a sinus opening. Two patients underwent open excision; one combined with diathermy to the sinus opening. The last patient was diagnosed at his initial presentation and managed with endoscopic diathermy of the sinus opening combined with percutaneous needle aspiration of the neck abscess at the same sitting. One patient had two recurrences, the first after initial open surgery and the second after the first cautery. Two patients developed temporary hoarseness after the procedure, which resolved within two weeks. All patients were free from recurrences at follow-up. ConclusionsIntroduction of the technique of endoscopic diathermy to the pyriform fossa sinus opening in children with third branchial pouch anomalies has revolutionised their management avoiding open and potentially morbid surgery. Our algorithm takes this further by advocating percutaneous needle aspiration of the infective component and performing diathermy to the sinus opening at the first presentation.

The endoscopic approach to a fourth branchial pouch sinus presenting in an adult

Fourth branchial complex anomalies are rare and typically present in neonates or adolescents. Surgical management via open excision is the traditional approach to prevent recurrence. However, endoscopic sinus cauterization has recently been reported as a less invasive alternative. The current case report represents the first published account of a fourth branchial pouch presenting in an adult patient effectively managed through endoscopic excision. We compare this method to open excision and endoscopic ablative techniques.

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial arch anomalies, hearing loss and renal dysmorphology. Although haploinsufficiency of EYA1 and SIX1 are known to cause BOR, copy number variation analysis has only been performed on a limited number of BOR patients. In this study, we used high-resolution array-based comparative genomic hybridization on 32 BOR probands negative for coding-sequence and splice-site mutations in known BOR-causing genes to identify potential disease-causing genomic rearrangements. Of the >1,000 rare and novel copy number variants we identified, four were heterozygous deletions of EYA1 and several downstream genes that had nearly identical breakpoints associated with retroviral sequence blocks, suggesting that non-allelic homologous recombination seeded by this recombination hotspot is important in the pathogenesis of BOR. A different heterozygous deletion removing the last exon of EYA1 was identified in an additional proband. Thus, in total five probands (14 %) had deletions of all or part of EYA1. Using a novel disease-gene prioritization strategy that includes network analysis of genes associated with other deletions suggests that SHARPIN (Sipl1), FGF3 and the HOXA gene cluster may contribute to the pathogenesis of BOR.

Coexisting First and Bilateral Second Branchial Fistulas in a Child with Nonfamilial Branchio-Otic Syndrome

We describe what we believe is only the third reported case of coexisting first and bilateral second branchial fistulas associated with nonfamilial branchio-otic syndrome. The patient was a 6-year-old girl who presented with bilaterally draining anterior neck puncta, a preauricular sinus, and moderately severe bilateral hearing loss. She had no family history of branchial anomalies. Compared with branchial cysts and sinuses, branchial fistulas are rare. Even more rare are bilateral second branchial fistulas coexisting with first branchial anomalies, as only 10 cases have been previously reported in the English-language literature. Of these 10 cases, 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic syndrome, 2 had nonfamilial branchio-otic syndrome, and 1 had nonfamilial branchio-oto-renal syndrome.

Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain

Multiple lines of evidence indicate that the AP-2 transcription factor family has an important regulatory function in human craniofacial development. Notably, mutations in TFAP2A, the gene encoding AP-2α, have been identified in patients with Branchio-Oculo-Facial Syndrome (BOFS). BOFS is an autosomal-dominant trait that commonly presents with facial clefting, eye defects and branchial skin anomalies. Examination of multiple cases has suggested either simple haploinsufficiency or more complex genetic causes for BOFS, especially as the clinical manifestations are variable, with no clear genotype-phenotype correlation. Mutations occur throughout TFAP2A, but mostly within conserved sequences within the DNA contact domain of AP-2α. However, the consequences of the various mutations for AP-2α protein function have not been evaluated. Therefore, it remains unclear if all BOFS mutations result in similar changes to the AP-2α protein or if they each produce specific alterations that underlie the spectrum of phenotypes. Here, we have investigated the molecular consequences of the mutations that localize to the DNA-binding region. We show that although individual mutations have different effects on DNA binding, they all demonstrate significantly reduced transcriptional activities. Moreover, all mutant derivatives have an altered nuclear:cytoplasmic distribution compared with the predominantly nuclear localization of wild-type AP-2α and several can exert a dominant-negative activity on the wild-type AP-2α protein. Overall, our data suggest that the individual TFAP2A BOFS mutations can generate null, hypomorphic or antimorphic alleles and that these differences in activity, combined with a role for AP-2α in epigenetic events, may influence the resultant pathology and the phenotypic variability.

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation

BackgroundBranchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. The most common gene mutated in BOR patients is EYA1, the human homolog of the Drosophila eyes absent gene, while mutations in SIX1 gene, the human homolog of sine oculis, encoding a DNA binding protein interacting with EYA1, have been reported less frequently. Recently, mutations in another SIX family member, SIX5, have been described in BOR patients, however, this association has not been confirmed by other groups.Case presentationIn this study, we have clinically and genetically characterized a proband that displayed hearing loss, pre-auricular pits, branchial fistulae, hypoplasia of the left kidney, bilateral mild hydronephrosis, progressive proteinuria and focal glomerulosclerosis. Mutational analysis of EYA1 gene revealed a novel splice site mutation, c.1475 + 1G > C, that affects EYA1 splicing and produces an aberrant mRNA transcript, lacking exon 15, which is predicted to encode a truncated protein of 456 aa.ConclusionThis report provided the functional description of a novel EYA1 splice site mutation and described for the first time a case of BOR syndrome associated with the atypical renal finding of focal glomerulosclerosis, highlighting the importance of molecular testing and detailed clinical evaluation to provide accurate diagnosis and appropriate genetic counselling.

Case series: Endoscopic management of fourth branchial arch anomalies

IntroductionFourth branchial arch anomalies represent <1% of all branchial anomalies and present as recurrent neck infections or suppurative thyroiditis. Traditionally, management has consisted of treatment of the acute infection followed by hemithyroidectomy, surgical excision of the tract and obliteration of the opening in the pyriform fossa. Recently, it has been suggested that endoscopic obliteration of the sinus tract alone using laser, chemo or electrocautery is a viable alternative to open surgery. ObjectivesTo determine the results of endoscopic obliteration of fourth branchial arch fistulae in children in our institute. MethodsRetrospective case note review of all children undergoing endoscopic treatment of fourth branchial arch anomalies in the last 7 years at the Royal Manchester Children's Hospital. Patient demographics, presenting symptoms, investigations and surgical technique were analysed. The primary and secondary outcome measures were resolution of recurrent infections and incidence of surgical complications, respectively. ResultsIn total 5 cases were identified (4 females and 1 male) aged between 3 and 12 years. All presented with recurrent left sided neck abscesses. All children underwent a diagnostic laryngo-tracheo-bronchoscopy which identified a sinus in the apex of the left pyriform fossa. This was obliterated using electrocautery in 1 patient, CO2 laser/Silver Nitrate chemocautery in 2 patients and Silver Nitrate chemocautery in a further 2 patients. There were no complications and no recurrences over a mean follow-up period of 25 months (range 11–41 months). ConclusionEndoscopic obliteration of pyriform fossa sinus is a safe method for treating fourth branchial arch anomalies with no recurrence.

Pyriform Sinus Fistula: A Single Center Experience

Received February 5, 2013 Revised March 7, 2013 Accepted March 8, 2013 Address for correspondence Dongbin Ahn, MD Department of OtolaryngologyHead and Neck Surgery, Kyungpook National University Medical Center, 807 Hoguk-ro, Buk-gu, Daegu 702-210, Korea Tel +82-53-200-5777 Fax +82-53-423-4524 E-mail godlikeu@naver.com Background and ObjectivesZZPyriform sinus fistula with 3 and 4 branchial cleft anomaly is an extremely rare congenital condition that is not very well understood owing to its rarity. The aim of the study was to review our experience with pyriform sinus fistulae to better understand them. Subjects and MethodZZOf 163 patients with branchial anomaly treated at our institute between 1999 and 2011, medical records of 15 patients with pyriform sinus fistula were retrospectively reviewed. ResultsZZOverall, 9.2% had pyriform sinus fistulae and this proportion was higher than that of patients with 1st branchial anomaly. The mean age at the time of initial symptom presentation was 11.9 years. However, five patients (33.3%) were not diagnosed at that time because pyriform sinus fistula was not suspected. Computed tomography (CT) was the most sensitive diagnostic tool in patients suspected to have pyriform sinus fistulae; the sensitivity of CT was 86.7%, whereas that for esophagography was only 20%. Conservative surgical treatment involving cauterization of the opening of the fistula tract was performed in nine patients and showed favorable results with 22.2% of recurrence rate during a mean follow-up period of 23.1 months. In 67.7% of the patients, the causative organisms were bacteria inhabiting human mouth, suggesting that infection source for pyriform sinus fistula may be food contents and discharge of upper aerodigestive tract. ConclusionZZThe incidence of pyriform sinus fistula may be higher than expected. Therefore, the possibility of pyriform sinus fistulae coexisting should be considered while treating young patients with perithyroidal infection. Korean J Otorhinolaryngol-Head Neck Surg 2013;56:154-8

Current management of congenital branchial cleft cysts, sinuses, and fistulae

Branchial anomalies comprise approximately 20% of pediatric congenital head and neck lesions. This study reviews current literature detailing the diagnosis and management of first, second, third and fourth branchial cysts, sinuses and fistulae. Branchial anomalies remain classified as first, second, third and fourth cysts, sinuses and fistulae. Management varies on the basis of classification. The imaging study of choice remains controversial. Computed tomography fistulography likely best demonstrates the complete course of the tract if a cutaneous opening is present. Treatment of all lesions has historically been by complete surgical excision of the entire tract. Studies of less invasive procedures for several anomalies are promising including sclerotherapy and endoscopic excision of second branchial cysts, and endoscopic cauterization or sclerotherapy at the piriform opening for third and fourth branchial sinuses. An increased risk of complications in children less than 8 years is reported in children undergoing open excision of third and fourth branchial anomalies. Branchial anomalies are common congenital pediatric head and neck lesions but are comprised by several diverse anomalies. Treatment must be tailored depending on which branchial arch is involved and whether a cyst mass or sinus/fistula tract is present.

Bilateral pharyngeal apparatus (branchial) sinuses in a set of identical twins — a case report

Defective closure of the pharyngeal apparatus during the second week of gestation results in pharyngeal arch anomalies. Although pharyngeal apparatus (branchial) anomalies are frequently seen, bilateral cases are rare (only 2% to 3%). Bilaterality has a familial predisposition. Our patients, a set of identical twins, presented with bilateral discharging cervical sinuses noticed at 3 months of age. Physical examination was suggestive of bilateral pharyngeal apparatus (branchial) sinuses. Both patients were managed with surgical excision in the same operative sitting. To the best of our knowledge, ours is the first case of bilateral pharyngeal apparatus (branchial) sinuses in a set of identical twins.

Management of pediatric second branchial fistulae: Is tonsillectomy necessary?

ObjectiveTo describe the surgical management of second branchial fistulae that extend to the pharynx, specifically to determine whether tonsillectomy, along with surgical excision of the tract affects the rate of recurrence. MethodsRetrospective chart review of pediatric patients (age<18) who underwent surgical excision of second branchial anomalies at a tertiary-care children's hospital between January 1, 2006 and September 1, 2011. Sinus tracts that extended to the pharynx were considered to be fistulae. ResultsSeventy-four patients were identified who underwent surgical excision of 85 total second branchial anomalies – 20 cysts (23.5%), 29 sinuses (34.1%), and 36 fistulae (42.4%). The 36 fistulae were removed from 32 patients, 23 males and 9 females, with an average age of 43.3 months. There were 16 right, 11 left, and 5 bilateral lesions. In 14 (43.8%) of the fistulae cases, a tonsillectomy was performed. There was only one recurrence (2.8%), which occurred 41 months postoperatively. No statistically significant difference for recurrence (p=1.0) was found between the group of patients that underwent tonsillectomy and those that did not. ConclusionPediatric branchial anomalies can present as a cyst, sinus, or fistula. They are developmental failures in the involution of the branchial apparatus during the embryologic period. Management of second branchial anomalies is with surgical excision of the tract and ligation of the terminal attachment to the pharynx. Our results suggest that the recurrence rates are not affected by whether or not an ipsilateral tonsillectomy is performed.

Branchial Cleft Cysts in a Pediatric Asian Population

Objective: Branchial cleft anomalies present fairly commonly in children as lateral neck masses. However, the diagnosis of such anomalies may not always be straightforward. This study seeks to review the distribution of branchial cleft anomalies in an Asian pediatric population, and highlight the challenges involved in diagnosis. Method: A retrospective chart review was performed of all pediatric patients who underwent surgery for branchial cleft anomalies between 2007 to 2011 in a tertiary pediatric hospital. The clinical notes were correlated with preoperative radiological investigations, intraoperative findings, and histology. Classification of the branchial cleft anomalies was attempted from the results. Results: Twenty-six children underwent surgery for 27 branchial cleft anomalies in the 4-year period; 1 child had excision of bilateral fourth branchial cleft sinuses. There were 7 patients (25.9%) with first, 5 patients (18.5%) with second, 2 patients (7.4%) with third, and 3 patients with 4 (14.8%) fourth branchial cleft anomalies. Six patients (22.2%) had branchial anomalies that were thought to be originating from the pyriform sinus, but we were unable to tell if these were from the third or fourth branchial clefts. The remaining 3 patients (11.1%) did not have adequate information for us to classify the level of anomaly. Conclusion: The incidence of second branchial cleft anomalies appears to be lower in our Asian pediatric population, with a higher incidence of third and fourth branchial cleft anomalies. Knowledge of the embryology and related anatomy of branchial clefts is crucial in helping to identify the type of branchial cleft anomaly present.

Branchiootic syndrome—a clinical case report and review of the literature

Branchiootoic syndrome is part of the spectrum of brachiootorenal disorders. Brachiootorenal disorder is a rare autosomal dominant condition, characterized by malformations of the outer, middle, and inner ear, which are associated with branchial and renal anomalies. We describe a case of bilateral branchiootoic syndrome and discuss the anatomy of second branchial cleft fistulae and the surgical management of this uncommon condition.We report the case of a 6-year-old girl referred to our department with bilateral intermittently discharging neck swellings. Clinical examination revealed bilateral branchial fistulae and preauricular sinuses, on a background of a positive family history of branchial fistulae. A magnetic resonance imaging scan confirmed the diagnosis of bilateral second branchial cleft fistulae. In view of her symptoms, she underwent bilateral branchial fistula excision and tonsillectomy with an uneventful postoperative recovery.

Multidetector computerized tomographic fistulography in the evaluation of congenital branchial cleft fistulae and sinuses

The aim of this study was to primarily investigate the usefulness of computerized tomographic (CT) fistulography in the diagnosis and management of branchial cleft fistulae and sinuses. Fifteen patients with confirmed branchial fistulae or sinuses who had undergone CT fistulography were included. The diagnoses were confirmed by clinical, radiologic, or histopathologic examinations. The internal openings, distribution, and neighboring relationship of the lesions presented by CT fistulography were analyzed to evaluate the usefulness in comparison with x-ray fistulography. Nine patients were diagnosed with first branchial fistulae or sinuses, 2 with second branchial fistulae, and 4 with third or fourth branchial fistulae. The presence and location of the lesions could be seen on x-ray fistulography. The distribution of the lesions, internal openings, and neighboring relationship with parotid gland, carotid sheath, and submandibular gland could be clearly demonstrated on CT cross-sectional or volume-rendering images. CT fistulography could provide valuable information and benefit surgical planning by demonstrating the courses of branchial anomalies in detail.