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Purpose The purpose of this work was to determine the epidemiology and the predictive factors of success of the surgical management of fourth branchial anomalies. Methods This is a multicentric retrospective review from 1998 to 2016 of patients who presented with an endoscopically-confirmed fourth branchial pouch anomaly. Data were analyzed according to sex, age, clinical features, number of recurrences, treatment modalities (endoscopic and/or cervicotomy), post-operative complications and follow-up. Results Fifty-two children have been included. The average age at diagnosis was 4.5 years. Among them, 73.1% were female, 11.4% were neonatal forms; 94.2% of lesions were left-sided; 75% of patients presented a cervical abscess as first symptom, and 7.7% of children presented with dyspnea. Average time between first symptoms and management was 9.5 months. Management was endoscopic in 73.1% of patients (laser in 84.2%, coagulation in 15.8%) with about a third of recurrence after one procedure. Overall success of endoscopic procedures reached 84.2%. A cervical open surgery was performed in 26.9% as first line treatment. Overall success of cervicotomy reached 85.7%. No complications of endoscopic surgery have been identified. There were 35.7% complications of cervicotomy (2 recurrent nerve palsy, 2 keloid scars, 1 pharyngostoma). An association was proved between recurrences and initial abscess (OR = 2.44), and with age between 3 and 5 (OR = 4). Conclusion Endoscopic treatments appear to be effective in first line approach in the management of fourth branchial anomalies, offering an excellent efficiency with rare complications. We identified two risk factors of recurrence: age between 3 and 5 years old and history of cervical abscesses. Level of evidence IV. more...

Recurrent neck abscess is a typical feature of branchial anomaly. Open surgical excision has been the primary treatment modality for past decades however several alternative treatment modalities such as endoscopic electrocauterization has recently gained popularity and acceptance universally. This series aims to introduce endoscopic assessment as the first line diagnostic and therapeutic management for branchial fistula. 5 patients underwent examination under general anesthesia via direct laryngoscopy, endoscopic assessment and cauterization in our centre from 2016 to 2019. They were then followed up at our clinic to assess disease progression. Comparison between open neck surgery and endoscopic cauterization of internal sinus tract opening as the primary treatment has reported similar recurrence rate. Proposal of endoscopic assessment as the first line investigation and diagnostic tool with the aim of therapeutic cauterization at the same setting. MRI may be needed in scenarios such as failed endoscopic treatment or when open surgery is required. more...

We report a case of the first branchial cleft anomaly, clinically typical but occult in images and pathology. An 8-year-old female who had an induration below her right mandibular angle was referred to our department with a diagnosis of an infectious epidermal cyst. CT and MRI had shown no evidence of fistula or cyst. At the initial operation, a string structure was observed, but pathologically no epithelial structure was observed. However, the infection at the same site repeated and the symptoms became more severe than before. Considering a high probability of the first branchial anomaly, partial parotidectomy was performed as radical surgery. A cord structure attached to subcutaneous tissue at the intertragal notch was found. Although no epithelial component in the pathology was detected, this string structure was clinically considered as the rudimentary form of the first branchial anomaly. more...

Type 2 branchial cleft anomalies are the most common cause of lateral neck swelling. We report two cases of type 2 branchial cleft anomalies. The first case is branchial cleft cyst and the second one is branchial fistula. Both cases were managed surgically. The post operative outcomes were uneventful. Second branchial cleft anomalies are the most common branchial anomalies. Branchial cysts are more common than sinuses and branchial fistulae are extremely rare. There is no gender predilection. The location, clinical symptoms and imaging findings aid in the diagnosis of this condition. Surgical excision is the mainstay of treatment.Keywords: branchial cleft; branchial cyst; branchial fistula. more...

Branchial cyst is a rare developmental disorder which is diagnosed rarely. Remnants of Branchial are present at birth but may become clinically significant later in life. We report a case of 14-year-old male patient with an asymptomatic branchial cyst over lateral side of neck. These cyst originate from remnants of branchial arches or branchial pouches. The definitive treatment of is complete surgical excision of the cyst. Complete surgical excision prevents recurrence or other complications. more...

Ninety-four patients with second branchial anomalies were retrospectively analysed at a tertiary care centre from January 2006 to September 2016 to determine the demographical data and management. Branchial sinus and fistula presented earlier as compared to branchial cyst. The mean age at presentation in case of branchial sinuses, fistulae and cysts was 5.07, 5.79 and 7.31 years respectively. There was preponderance in males as compared to females, more so in bilateral cases. Male to female sex ratio was 2.91:1. The branchial fistulae were the most common type of lesions, followed by the branchial sinuses. The branchial anomalies were more on the right side (65.96%) probably due to right handedness of the population. Only eight patients (8.51%) had bilateral anomalies. Four patients had familial association, it was seen in bilateral cases and they presented earlier than unilateral cases. Early and complete surgical excision is the treatment of choice. Preoperative sinogram/fistulogram and intraoperative methylene blue dye injection is not mandatory for excision of a branchial sinus/fistula. Post-operative wound infection was the most common complication (4.25%). more...

Purpose: To report an unusual occurrence of HPV infection manifesting as a squamous papilloma within a branchial cleft cyst. Study design/Methods: Case report and review of literature. Results: A 64-year-old male presented with a history of recurrent oropharyngeal papillomas concurrent with a cystic neck lesion. Initial FNA biopsy was suspicious for a cystic nodal metastasis of squamous cell carcinoma. Upon excision of the neck mass, histopathologic analysis revealed a squamous papilloma arising from within a branchial cleft cyst. HPV positivity was confirmed with in-situ hybridization. The patient remains disease free after 75 months of follow-up. Conclusions: HPV infections of the upper respiratory tract are potentially transmissible into the neck via a branchial anomaly. Oncologic considerations are discussed. Keywords: Human papilloma virus, Papilloma, Branchial cleft anomaly, Branchial cleft cyst more...

A bilobed tongue base was identified in an infant with multiple other head, neck and cardiac congenital anomalies. This anatomical variation of the posterior tongue is rare, with only two other cases identified in the literature. We report a case of a 5-month-old boy with a bilobed posterior tongue incidentally identified during workup for cardiac surgery. more...

Branchial anomalies (BA) are developmental lesions that are believed to be either vestigial remnants resulting from incomplete obliteration of the branchial apparatus or the result of buried epithelial cell rests. more...

Background: Branchial cleft cyst is rare congenital anomaly and most common cause of head and neck pathology in children. Second branchial cyst accounts 95 % of the all brnchial anomalies. It mostly manifest in 2nd and 3rd decade of life. Early diagnosis, controlling the infection status and complete excision without nerve injury is mainstay of treatment. Recurrence rates is very low after complete surgical excision. Study Design: Retrospective study. Setting: Department of Otolaryngology, Head and Neck Surgery, Benazir Bhutto Hospital Rawalpindi. Period: 02 year from August 2016 to July 2018. Methods: 04 cases of branchial anomalies. Age, sex, and duration of symptoms were noted from the case records. The side and site of the lesion and the site of opening of sinuses and fistula were noted. The cystic lesions were investigated with ultrasound and CT scan. Surgical excision of cyst and sinus done. Results: The structure of the studied group was as follows: the ratio men/women was of approximately 3/1; the ratio branchial cysts/branchial sinuses/branchial fistulae = 2/2/0. Age ranged from 16 to 27 years. Two patients presented with left neck swelling and one patient presented with right neck swelling and one with right sided discharging sinus. Complete surgical excision was done in all cases and no complication occured. Conclusion: Branchial cysts are commonly misdiagnosed and rarely included in the differential diagnosis. Physician should suspect in any patient with a swelling in the lateral part of the neck. more...

Type II branchial cleft anomalies are the most frequent branchial anomaly (90%). Type I, III and IV branchial cleft anomalies are much rarer. We report the case of a young woman who underwent 12 operations before the correct diagnosis of a type IV branchial arch anomaly was made. Direct laryngoscopy and computed tomography after barium swallow confirmed the sinus tract. Branchial cysts, fistulas, and sinuses are anomalies of the branchial apparatus occurring after failure of a branchial cleft to involute. Branchial anomalies may be diagnosed at any age but present most commonly in infancy and childhood.1 Derivates from the fourth pharyngeal arch are the superior parathyroid glands, various muscles, the thyroid and epiglottic cartilage, and the vagal nerve.2 Fourth branchial anomalies begin in the apex of the piriform fossa, pierce the larynx near the cricothyroid ligament, and then pass between the superior and recurrent laryngeal nerves (Figure ​(Figure1).1). Left‐sided anomalies descend in the tracheoesophageal groove and loops around the aorta, ascending posteriorly to the common carotid before passing over the hypoglossal nerve. On the right side, the fistulas loop around the subclavian artery.3 Open in a separate window Figure 1 Anatomic course of type IV fistulas, SLN superior laryngeal nerve, CN cranial nerve, RLN recurrent laryngeal nerve, JV jugular vein more...

The objective of the present study was to review the distribution and incidence of branchial anomalies in an Asian paediatric population and highlight the challenges involved in the diagnosis of branchial anomalies.This was a retrospective chart review of all paediatric patients who underwent surgery for branchial anomalies in a tertiary paediatric hospital from August 2007 to November 2012. The clinical notes were correlated with preoperative radiological investigations, intraoperative findings and histology results. Branchial anomalies were classified based on the results of the review.A total of 28 children underwent surgery for 30 branchial anomalies during the review period. Two children had bilateral branchial anomalies requiring excision. Of the 30 branchial anomalies, 7 (23.3%) were first branchial anomalies, 5 (16.7%) were second branchial anomalies, 3 (10.0%) were third branchial anomalies, and 4 (13.3%) were fourth branchial anomalies (one of the four patients with fourth branchial anomalies had bilateral branchial anomalies). In addition, seven children had 8 (26.7%) branchial anomalies that were thought to originate from the pyriform sinus; however, we were unable to determine if these anomalies were from the third or fourth branchial arches. There was inadequate information on the remaining 3 (10.0%) branchial anomalies for classification.The incidence of second branchial anomalies appears to be lower in our Asian paediatric population, while that of third and fourth branchial anomalies was higher. Knowledge of embryology and the related anatomy of the branchial apparatus is crucial in the identification of the type of branchial anomaly. more...

Cystic masses of the neck may represent a wide variety of pathological conditions. Among these, branchial anomalies are the commonest paediatric congenital lesions of the head and neck. This article intends to review this condition under the same headings, as well as facilitate their diagnosis with the help of appropriate radiological findings of patients diagnosed with these anomalies. In order to make an accurate diagnosis, it is imperative to have an idea about the possible differentials, and the normal embryological development of the branchial arches, as well as their anomalies, in the form of sinuses, fistulae, and cysts, with their features and subtypes. The medical history of the patient and clinical manifestations helps in suspecting branchial cleft cysts; confirmatory imaging modalities include computed tomography, magnetic resonance imaging, ultrasonography, and fine-needle aspiration. The mainstay of management is usually by surgical excision. The location, clinical picture, and radiological correlation, along with a strong degree of suspicion for the condition, facilitates the diagnosis of this relatively common embryological anomaly. more...

Neck lesions in children can be congenital or acquired in origin. Accurate diagnosis aids in the management of these lesions. Thyroglossal cyst and sinuses are the most common congenital neck lesion followed by branchial anomalies. more...

Branchial cleft anomalies comprise approximately 30% of congenital neck mass and present as cyst, sinus or fistula. They occur due to disturbance in the maturation of the branchial apparatus during fetal development. They are congenital lesions usually present in childhood, but they are usually diagnosed in later childhood or early adulthood because of enlargement or infection. Branchial cleft fistulae are usually diagnosed earlier than cysts. Correct diagnosis leads to proper management. Complete surgical excision is the treatment of choice. Second branchial cleft and pouch anomalies are commonest amongst all branchial cleft lesions, but complete second branchial cleft anomalies with external and internal opening is rare. Branchial anomalies with family history are also very rare. Here we present a case report of complete branchial fistula with family history which was managed by complete excision of fistula through transcervical and transoral approaches. 3 members of one family in 2 generations presented with branchial apparatus anomalies (father and his two children, elder son and younger daughter). All of them were having branchial fistula on right side of neck since birth. more...

Fourth branchial cleft anomalies are the rarest type of branchial anomalies. They arise from an incomplete involution of the fourth branchial cleft during development. We report the successful surgical excision of a left fourth branchial cleft cyst in a pediatric patient presenting with an enlarging painless lateral neck mass. Intraoperatively the patient was found to have a large left branchial cleft cyst, which displaced the left superior pole of the thyroid lobe. In addition, there was hemiagenesis of the right thyroid. Keywords: Fourth branchial anomaly, Fourth branchial cyst, Hemiagenesis, Complete surgical excision more...

Background: It is a combined retrospective and prospective study of 12 cases of branchial cleft anomalies presented to our hospital. We analysed them for their age and sex incidence, side prevalence, according to clinical features and treatment outcomes.Methods: Thorough history was taken and examination was done and these cases are investigated with CT scan, MRI scan and treated with surgical excision. Results: Cyst is seen in 7 (58.33%) patients while one case of sinus and one (8.33%) of fistula,1 case of co-existing sinus and fistula (8.33%), and one Bilateral sinus and 1 bilateral fistula (8.33%) were seen. Overall incidences of branchial anomalies are more (40%) in 11-15 year age group. Overall incidence of branchial anomalies is more in male (66.66%) than female (33.33%). 4 cysts were right sided and 3 were left sided. Sinus and fistula were seen one case having right sided and 1 case having bilateral anomaly. Patients having branchial cysts presents most commonly with neck swelling and pain while patients having fistula and sinus presents commonly with discharging opening over anterior neck. 1 case of recurrence found in cyst on follow up and no recurrences were seen in sinus and fistula.Conclusions: Cyst is the most common anomaly, most commonly affected age group is 11-15 years, male are more commonly affected, these anomalies are more prevalent on right side, and there are very less chances of recurrence after surgical excision. more...

Introduction To propose an operation similar to selective neck dissection (levels II, III and IV) as a method of successful management of second arch branchial anomalies. Materials and methods We did a prospective study on patients with branchial arch anomalies from the years 2009 to 2013. They underwent minimal radiological workup. All of them underwent a novel surgical procedure similar to selective neck dissection (levels II, III, IV) that lead to excision of the tract. Patients were followed up for an average period of 2 years. Results We had seven patients which included two branchial sinus, three cysts and two fistulae. All of them were operated and the tract was identified and completely excised by the above approach. None of them had any complications or recurrence on follow-up. Conclusion Branchial arch anomalies are rare congenital problems posing a significant challenge to an ENT surgeon. Inadequate and inappropriate surgeries resulting in recurrences are quite common. Attempts to get either a sinogram or fistulogram are often a failure and cumbersome. Selective neck dissection from levels II to IV is a surgical maneuver which allows access to the involved anatomical segment of the neck. Thus, it is a structured and methodical approach that comprehensively leads to excision of the complete tract. It also reduces the chances of complications. Recurrences are rare with this technique. How to cite this article Merchant S, Mohiyuddin A, Deo RP, Raj S, Nawaz S, Mohammadi K. Selective Neck Dissection: A Novel Technique for Second Branchial Arch Anomalies. Int J Head Neck Surg 2014;5(2):57-60. more...

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. more...

Introduction: Pyriform sinus fistula is a rare cervical branchial anomaly derived from the third and fourth branchial arch. Pyriform sinus fistula should be considered in children presenting enlarged neck mass, fistula, abscess, thyroid infection and/or dysphonia. Objective: We here report 4 cases treated in Hospital Clinico Universidad de Chile and review of the current literature on pyriform sinus fistula. Discussion: When clinical presentation is compatible with pyriform sinus fistula, endoscopic and imaging techniques are required. Surgical outcomes are better, although endoscopic therapies and combination of both surgery and endoscopy have also reported good outcomes. Conclusion: Diagnosis is made based on signs and symptoms and a high index of clinical suspicion. Open surgery is gold standard, however in pediatric population endoscopic resolution should be considered to reduce the high morbidity of traditional surgery. more...

Up to 20% of all congenital pediatric head and neck masses are branchial cleft cysts. Second branchial cleft cysts account for 95% of branchial anomalies, and fourth branchial cleft cysts are the rarest type. Their typical presentations include non-life-threatening symptoms, such as drainage, skin irritations, minor swelling, and tenderness. We describe a 5-week-old neonate with increasing stridor secondary to a rapidly growing neck mass. Imaging and surgical excision confirmed the mass to be an infected fourth branchial cleft cyst. more...

Cutaneous bronchogenic cysts are rare, and stem from developmental abnormalities of the tracheobronchial tree. The condition is often misdiagnosed clinically, with the correct diagnosis usually established by histopathologic examination. Published reports of bronchogenic or branchial anomalies are increasing, and the traditional defining characteristics of location and histopathology are proving to be less reliable for the identification of cutaneous bronchogenic cysts. In this report, we describe a case of a cutaneous bronchogenic cyst that presented with unusual histologic features, and was associated with several lymphoid follicles. more...

A 37-year-old yellow-crowned Amazon parrot (Amazona ochrocephala) and a 20-year-old red-lored Amazon parrot (Amazona autumnalis) each presented with a large mass localized on the lateral neck. With the first bird, there was no evidence of signs of pain or discomfort, and the bird prehended and swallowed food normally. The second bird showed signs of mild upper-gastrointestinal discomfort. Results of an ultrasound examination and aspiration of the mass on each bird revealed a cystic structure. A computed tomography performed on the second bird revealed a large polycystic mass connected to the pharynx by a lateral tract. During surgical resection, both masses were found to originate from the subpharyngeal area. Based on topography and the histopathologic and immunohistochemical results, the masses were determined to be a second branchial cleft cyst for the first case and a second branchial pouch cyst for the second case. In addition, a carcinoma was present in situ within the epithelium of case 1, and the cyst in case 2 was secondarily infected. Branchial cysts are uncommonly diagnosed in veterinary and human medicine. These 2 cases are the first documented in parrots and appear similar to second branchial cysts reported in adult humans. more...

BACKGROUND AND PURPOSE: There is wide discrepancy between common clinical and radiologic presentations of branchial sinuses arising from the pyriform fossa and the theoretic course of third and fourth branchial arch anomalies. The purpose of this study was to revisit the clinical presentations and imaging features of such anomalies in children. MATERIALS AND METHODS: A retrospective review of institutional and diagnostic imaging data bases from 1998 to 2008 for reported cases of third and fourth branchial cleft anomalies was conducted. Clinical presentation, pharyngoscopy results, and imaging features in all the patients were evaluated. Surgical and histopathology correlation in patients who underwent excision of the tract was also obtained. RESULTS: Twenty reported cases described as third or fourth branchial apparatus anomalies were identified. There were 12 females and 8 males with a mean age of 84.6 months. The most common presentation was an inflammatory neck mass (18/20, 90%) almost always involving the thyroid gland. Most lesions were on the left side (16/20, 80%). Pharyngoscopy showed a sinus opening at the piriform fossa in 18/20 (90%) cases. None of the cases followed the classic theoretic pathway of third and fourth arch remnants. Histopathology showed tracts lined with pseudostratified squamous epithelium or ciliated columnar epithelium often associated with inflammatory changes in 17 surgically resected cases. CONCLUSIONS: Branchial sinuses arising from the pyriform fossa often present with an inflammatory neck mass involving the thyroid lobe, most often on the left side. Imaging and surgical findings suggest that they arise from the embryonal thymopharyngeal duct of the third branchial pouch, because they do not follow the hypothetic course of third or fourth arch fistulas. more...

Anomalies of the branchial apparatus occur with some frequency in the adult and pediatric populations. Branchial anomalies are most often derivatives of the first or second pouch. Branchial anomalies involving the third pouch may present as cysts, sinuses, fistulas, and ectopic glands. They are relatively rare, and they respond well to surgical removal. We report the case of a 53-year-old woman who was referred to us for evaluation of a persistent left upper neck mass. The patient had no history of a cervical mass as a child or young adult. The mass was excised uneventfully, and the final pathology revealed a normocellular parathyroid gland and thymic tissue. more...

Embryologic anomalies of the fourth branchial pouch are rarely seen. They usually present as recurring episodes of deep neck infections and/or abscesses or acute suppurative thyroiditis. Failure to recognize these unusual cases may result in misdiagnosis, inadequate treatment, and subsequent recurrence. We report 3 cases of patients with fourth branchial anomalies. Diagnosis starts with a preoperative evaluation consisting of a barium swallow or sonogram followed by direct hypopharyngoscopy at the time of surgery. Treatment of acutely infected sinuses is best done with appropriate antibiotics and, if necessary, with incision and drainage. Surgical excision should be planned after the inflammation has completely resolved. more...

Background: Third and fourth branchial remnants may result in cysts and abscesses that are in close contact with the thyroid gland. These anomalies are rare and often present diagnostic and therapeutic challenges. Methods: The charts of patients diagnosed with a branchial anomaly between July 1991 and July 2001 at the Montreal Children's Hospital were reviewed. All cases of third and fourth branchial remnants or pyriform sinus fistulae were identified. Clinical presentation, imaging, treatment, and outcome were recorded. Results: Eight patients with a third or fourth branchial anomaly were identified and ranged in age from birth to 13 years. All anomalies were left sided. Presenting symptoms consisted of an asymptomatic cervical mass (n = 1), an infected mass (n = 5), neonatal respiratory distress (n = 1), and 1 incidental cyst found on magnetic resonance imaging. Ultrasonography was useful in suggesting the diagnosis in 7 cases. Barium swallow was performed in 3 patients with 2 positive results. Pharyngoscopy results showed the internal opening in 2 of 7 patients. A portion of the thyroid gland was resected in 6 patients. One patient has not yet undergone a definitive procedure. There was 1 recurrence in a patient whose pathology did not confirm a branchial remnant. Conclusions: The diagnosis and management of pyriform sinus anomalies are challenging. Ultrasound scan, computed tomography scan, barium swallow, and pharyngoscopy are all useful. The portion of thyroid involved in the fistula must be excised en bloc with the inflammatory mass, and the tract should be ligated at the level of the pharynx to minimize recurrence. J Pediatr Surg 37:685-690. Copyright 2002, Elsevier Science (USA). All rights reserved. more...

The embryologic development of the head and neck is directed by an ensemble of numerous genes. Embryologic malformations of the head and neck are rare. When they do occur, the most common are thyroglossal duct cysts and branchial anomalies. Most malformations are apparent at birth. Complete excision at an early stage is recommended to prevent complications such as infection. We describe an extremely rare case of bilateral branchial tracts in which there was evidence of a genetic etiology. To the best of our knowledge, this is the first case of familial bilateral branchial tracts to be described in the literature. more...

First branchial cleft anomalies account for only 1-8% of all branchial anomalies. Several classification systems have been proposed to aid in the diagnosis of these defects. We present a series of 12 patients with first branchial cleft anomalies classified according to anatomic criteria. The preferred treatment is complete excision. For patients with acutely inflamed masses, surgery should be performed only after resolution of the infection has been achieved with adequate drainage in combination with antibiotic therapy. more...

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. more...

First branchial cleft cysts are rare and can present as a diagnostic challenge to the physician. There can be frequent misdiagnoses, leading to a delay in treatment. This may result in mismanagement, causing an increased rate of recurrence. Moreover, their close relationship to the facial nerve would necessitate the exposure and preservation of the facial nerve. We report a case of a patient with the classical presentation of a Work type II branchial cleft cyst. Imaging showed a lesion just adjacent to the external auditory canal. Intraoperatively, a cartilagelined blind-ending sac with hair-bearing contents duplicating the external auditory canal was found. The case highlights the need to consider the diagnosis of first branchial cleft anomaly especially in the presence of cysts and sinuses within the region of the parotid and the upper neck. Complete surgical excision would be the mainstay of treatment to prevent future recurrence. Keywords : branchial cleft cyst, branchial anomaly, branchial fistula, congenital defects, pediatric neck mass more...

Introduction: Branchial cleft cysts are congenital developmental defects of which second branchial anomalies are the most common type. Most of these anomalies present as a lateral neck mass along anterior border of sternocliedomastoid muscle. Careful examination and proper intervention is needed in some of these cases to avoid unwanted complications or even emergencies. Case presentation: A 5 years old boy was brought by his parents with history of dysphagia and snoring for about one month. There was no other associated history of sore throat or shortness of breath or oral bleeding. During fiberoptic examination we found a pedunculated left nasopharyngeal mass. CT imaging showed a left nasopharyngeal hypodense lesion with no vascular or bony invasion. Excision of the cyst was done via combined transoral/transnasal endoscopic approach. Follow up after eight months showed no evidence of recurrence. Conclusion: Second branchial cleft cysts presenting in the nasopharynx are considered rare presentations of the disease and other differential diagnosis should be always brought in mind. Fiberoptic examination of such cases is mandatory to rule out laryngeal involvement and to predict the extension of the cyst for surgical intervention. Surgical excision through combined transoral/transnasal endoscopic including the tract ligation is the treatment of choice to prevent recurrence and to minimize the occurrence of possible secondary infection of the cyst. more...

Since branchial anomalies are developmental disorders, pyriform sinus fistula (PSF) has been considered as a pediatric disease, and most reports of PSF with clinical symptoms have thus been on neonatal and young children. There are only a few case reports worldwide, of PSF found in adult patients. Here, we report a case where the patient’s initial symptom of PSF occurred at the age of 72. Interestingly, papillary thyroid carcinoma (PTC) was concurrently identified on computed tomography during the evaluation for PSF. Chemical cauterization and total thyroidectomy was performed for the treatment of PSF and PTC, respectively. This case report may contribute to increased awareness of PSF in adult patients and the possible coexistence of thyroid cancer in these patients. more...

Branchial cleft anomalies comprise a heterogeneous group of congenital malformations derived from incomplete in utero resorption of the pharyngeal clefts and pouches. Fistulae, cysts, sinus, tracts and cartilaginous remnants of the first and second branchial clefts are the most common manifestations. These anomalies are excised to prevent the morbidity of subsequent infection. Complete second arch fistulae are rare and comprise 2% of all branchial anomalies. Only 5 cases of bilateral branchial cleft fistulas have been reported in the English-language literature. more...

Design We examined 3 generations in a family for congenital conductive hearing impairment, dysmorphic small auricles, and lip pits. Setting Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, the Netherlands. Results Seven members of the family had bilateral dysmorphic auricles. Three subjects had either a pit or dimple in the lip. Two subjects had congenital conductive hearing impairment. Conclusion Using gene linkage, we confirmed that these autosomal dominant inherited branchial anomalies present a new separate branchial arch syndrome. more...

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 more...

A 21-year-old woman was referred to our hospital because of proteinuria and mild renal dysfunction. Her serum creatinine concentration was 1.10 mg/dl and estimated glomerular filtration rate was 53.9 ml/min per 1.73 m2. The urinary analysis revealed 2+ protein. Abdominal computerized tomography (CT) showed right renal hypoplasia (Figure 1). In addition, she had mixed hearing disturbance and a history of surgeries for correction of left cervical branchial fistulae and bilateral preauricular pits (Figure 2, left ear). Her temporal bone CT presented bilateral inner ear malformation. On the basis of these findings, she was suspected to have branchio-oto-renal (BOR) syndrome, although she has no family history on renal dysfunction and hearing disturbance. The BOR syndrome is an autosomal dominant disorder, which is characterized by the association of branchial anomalies (preauricular pits and branchial fistulae or cysts), otic anomalies affecting the outer, middle, and/or inner ear, which frequently lead to hearing disturbance (sensorineural, conductive, or mixed), and a wide spectrum of renal anomalies ranging from mild hypoplasia to lethal bilateral renal aplasia. The prevalence is approximately 1 in 40,000. The BOR syndrome is associated with several genetic mutations in EYA1, SIX1, SALL1, and SIX5. Because of disagreement towards conducting gene analysis from the patient's family, we performed gene analysis of only the patient with informed consent. DNA sequencing analysis revealed a heterozygous mutation, c.880 C>T, p.R294X, in exon 10 of the EYA1 gene. The BOR syndrome should be taken into consideration on the differential diagnosis in young adult patients with renal dysfunction and hearing disturbance. more...

Branchial cleft cysts and branchial anomalies develop from the branchial cleft apparatus that persists after fetal development. The most common anatomical site for the occurrence of branchial cleft cysts is in the cervical area, generally anterior to the sternomastoid muscle in the upper or middle portion of the neck. A mediastinal branchial cleft cyst is extremely rare and few cases have been reported. We report the case of branchial cleft cyst found in the anterior mediastinum with literature review. more...

Objectives To identify the clinical and anatomical presentations and to discuss the guidelines for surgical management of anomalies of the first branchial cleft. Design Retrospective study. Setting Three tertiary care centers. Patients Thirty-nine patients with first branchial cleft anomalies operated on between 1980 and 1996. Intervention All patients were treated surgically. Complete removal of the lesion required superficial parotidectomy with facial nerve dissection in 36 cases. The relationship of the facial nerve and anomalies is discussed. Results Anatomically, 3 types of first branchial cleft anomalies are identified: fistulas (n=11), sinuses (n=20), and cysts (n=8). Clinically, 3 types of presentation are noted: chronic purulent drainage from the ear (n=12), periauricular swelling in the parotid area (n=18), and abscess or persistent fistula in the neck located above a horizontal plane passing through the hyoid bone (n=21). A membranous attachment between the floor of the external auditory canal and the tympanic membrane was observed in 10% of cases. The facial nerve was located lateral to the anomaly in 39% of cases. Conclusions Before definitive surgery, many patients (n=17) underwent incision and drainage for infection owing to the difficulties in diagnosing this anomaly. Wide exposure is necessary in most cases, and a standard parotidectomy incision allows adequate exposure of the anomaly and preservation of the facial nerve. Complete removal without complications depends on a good understanding of regional embryogenesis, a knowledge of the circumstances surrounding discovery, an awareness of the different anatomical presentations, and a readiness to identify and protect the facial nerve during resection. more...