Branchial Anomalies Research Articles

First branchial cleft anomaly presenting with a complete duplication of the external auditory canal—A photo anatomic review

Abstract First branchial cleft anomalies are an uncommon group of congenital malformations. Anatomically complex in origin, they present with an impressive array of signs and symptoms. There are several classification systems available, rendering them challenging in terms of preoperative assessment and surgical planning. The objective of this report is to describe the presentation, surgical treatment, and outcome of a child presenting with a complex cerumen containing duplication of the external ear canal running medial to the facial nerve. Diagnostic and management pitfalls in the approach to pediatric patients with first branchial anomalies are outlined. A review of the literature is presented.

Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings.

The branchial arches are the embryological precursors of the face, neck and pharynx. Anomalies of the branchial arches are the second most common congenital lesions of the head and neck in children, with second branchial arch anomalies by far the most common. Clinically, these congenital anomalies may present as cysts, sinus tracts, fistulae or cartilaginous remnants with typical clinical and radiological findings. We review the normal embryological development of the branchial arches and the anatomical structures of the head and neck that derive from each arch. The typical clinical and radiological appearances of both common and uncommon branchial arch abnormalities are discussed with an emphasis on branchial cleft anomalies.Key points• Anomalies of the branchial arches usually present as cysts, sinuses or fistulae.• Second branchial arch anomalies account for approximately 95 % of cases.• There are no pathognomonic imaging features so diagnosis depends on a high index of suspicion and knowledge of typical locations.• Persistent cysts, fistulae or recurrent localised infection may be due to branchial arch anomalies.• Surgical excision of the cyst or tract is the most common curative option.

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus

VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly—in the absence of hydrocephalus.

Branchial cleft and pouch anomalies in childhood: a report of 50 surgical cases

Branchial abnormalities occur when there is disturbance in the maturation of the branchial apparatus during fetal development. Branchial anomalies are congenital lesions usually present in childhood, even if they can be diagnosed later for enlargement or infection. A correct diagnosis will lead to proper management: complete surgical excision is the treatment of choice. The purpose of this article is to present clinical features, diagnostic methods and surgical treatment of branchial anomalies in childhood, based on a series of 50 patients. We conducted a retrospective analysis of a total of 50 pediatric patients operated from June 2005 to June 2014 for the presence of branchial cleft anomalies. 27 cases (54 %) presented a second branchial cleft fistula and 11 cases (22 %) a second branchial cleft cyst and one case (2 %) presented both cyst and sinus of the second branchial cleft; four cases (8 %) presented first branchial cleft cyst whereas four cases (8 %) a first branchial cleft sinus and two cases (4 %) a first branchial cleft fistula; one case (2 %) presented a piriform sinus fistula (third branchial cleft). None of our patients presented anomalies of the fourth branchial cleft. All patients underwent surgical treatment and lesions have been removed by excision or fistulectomy. No post-surgical complication occurred. The rate of recurrence was 4 %. Pre-operative diagnosis supplies important information to the surgeon for a proper therapy: a complete excision of the lesion without inflammatory signs is essential to avoid re-intervention and to achieve a good outcome.

Open and Endoscopic Management of Fourth Branchial Pouch Sinus – Our Experience

Introduction Acute suppurative neck infections associated with third or fourth branchial arch fistulas are frequently recurrent. Third and fourth branchial arch anomalies are much less common and usually present with recurrent left thyroid lobe abscesses. Objectives The authors present their experience in treating such cases that were observed exclusively in children. Methods The study involved performing a retrospective review of five cases in PSG Institute of Medical Sciences & Research. All cases were evaluated radiologically and with Direct Rigid hypopharyngoscopy. Definitive surgery was performed, including hemithyroidectomy. Results The patients consisted of five children, two boys and three girls. All of them presented with recurrent episodes of neck infection. Investigations performed included computed tomography (CT) fistulography, rigid hypopharyngoscopy and ultrasound, which were useful in preoperatively delineating pyriform sinus fistulous tract. All patients underwent neck exploration with excision of the fistulous tract and hemithyroidectomy. Upon follow-up, all patients are asymptomatic. Conclusions Recurrent neck abscesses in a child should alert the clinician to the possibility of a fourth branchial arch anomaly; therefore, children with this condition require a complete evaluation so the anomaly can be ruled out.

Distribution of branchial anomalies in a paediatric Asian population.

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.

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.

Molecular alterations of the GLI2 gene in 2q14.2 are associated with features from the holoprosencephaly spectrum. However, the phenotype is extremely variable, ranging from unaffected mutation heterozygotes to isolated or combined pituitary hormone deficiency, and to patients with a phenotype that overlaps with holoprosencephaly, including abnormal pituitary gland formation/function, craniofacial dysmorphisms, branchial arch anomalies, and polydactyly. Although many point mutations within the GLI2 gene have been identified, large (sub) microscopic deletions affecting 2q14.2 are rare. We report on a family with a 4.3 Mb deletion in 2q14 affecting GLI2 without any dysmorphologic features belonging to the holoprosencephaly spectrum. This family confirms the incomplete penetrance of genomic disturbances affecting the GLI2 gene. However, the family presented here is unique as none of the three identified individuals with a GLI2 deletion showed any typical signs of holoprosencephaly, whereas all patients reported so far were referred for genetic testing because at least one member exhibited holoprosencephaly and related features.

Minimally invasive surgery for pyriform sinus fistula by transoral videolaryngoscopic surgery

Pyriform sinus fistula is a rare branchial anomaly that manifests as recurrent cervical infection resulting from contamination of the fistula internal orifice in the pyriform sinus. Although open neck surgery to resect the fistula has been recommended as a definitive treatment, identifying the fistula within the scar is difficult and occasionally results in recurrence. Here, we describe a novel transoral surgical technique for pyriform sinus fistula using transoral videolaryngoscopic surgery (TOVS) as a definitive treatment to resect and close the fistula without skin incision. Needle cautery enables fine excision and delicate dissection of the fistula tract. TOVS is a safe, easy, and reliable treatment and is a suitable first line treatment.

A novel surgical management of hypopharyngeal branchial anomalies

ObjectiveTo review our experience treating hypopharyngeal branchial anomalies utilizing an open transcervical approach that: (1) includes recurrent laryngeal nerve (RLN) monitoring and identification if needed; (2) resection of tract if present; and (3) a superiorly based sternothyroid muscle flap for closure. MethodsA retrospective chart review was performed to identify all patients at a tertiary level children's hospital with branchial anomalies from 2005 to 2014. The clinical presentation, evaluation, treatment and outcome were analyzed for those patients with hypopharyngeal branchial anomalies. ResultsForty-seven patients who underwent excision of branchial anomalies with a known origin were identified. Thirteen patients had hypopharyngeal branchial anomalies. Six of these patients were treated by the authors of this study and are the focus of this analysis. All six underwent an open transcervical procedure with a sternothyroid muscle flap closure of a piriform sinus opening over a nine year period. Definitive surgery included a microlaryngoscopy and an open transcervical approach to close a fistula between the piriform sinus and neck with recurrent laryngeal nerve monitoring or dissection. A superiorly based sternothyroid muscle flap was used to close the sinus opening. There were no recurrences, recurrent laryngeal nerve injuries or other complications from these procedures. ConclusionsThis study supports complete surgical extirpation of the fistula tract using an open cervical approach, recurrent laryngeal nerve monitoring or identification, and rotational muscle flap closure to treat patients with hypopharyngeal branchial anomalies.

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.

Diagnostic and Surgical Approach of Thyroglossal Duct Cyst in Children: Ten Years Data Review.

Thyroglossal duct cysts are the most common congenital midline neck swelling in children. To evaluate the clinical features, treatment, incidence of complications and outcomes in children with congenital midline neck lesions and more specifically with thyroglossal duct cyst, treated in our department the last ten years. It is a retrospective study. The aggregated data revealed 59 patients with congenital midline neck lesions, of which 33 patients were with thyroglossal duct cyst (TDC). The diagnosis of TDC was made by physical examination, ultrasound (US) in all cases, and for complicated cases a magnetic resonance imaging (MRI) was performed. In all cases followed histopathological conformation of thyroglossal duct cyst. Fifty nine patients were admitted with midline cystic neck mass and the histopathological evaluation revealed, 33 cases (55.9%) of thyroglossal duct cyst, 14 cases (23.7%) of dermoid cysts, 3 cases (5.1%) of second branchial anomalies, 4 cases (6.7%) of inflammation of unknown cause, 4 cases (6.7%) of lymph nodes and 1 case (1.7%) of capillary skin haemangioma. More specifically, 38 patients were admitted with preoperative diagnosis of thyroglossal duct cyst, but in 5 patients pathological investigation demonstrated the presence of dermoid cyst. The mean age of the 33 patients with TDC at the time of surgery was 6.125 years, ranging between 9 months and 13 years with 10 patients younger than 3 years. Of the 38 patients with initial diagnosis of thyroglossal duct cyst, only four patients (10.5%) had a simple cyst excision and complication rate was 25% (1 case with recurrence). In these patients, the histopathological examination showed that three of them had a dermoid cyst and one had thyroglossal duct cyst. The other 34 patients (89.4%) were treated by Sistrunk's procedure, with two cases (5.9%) were proven on histology to be non TDC. In this group the complication rate was 3.03% (1 case with wound infection). The inappropriate surgical approach due to misdiagnosis or the incomplete surgical procedure remains the impact factor for recurrence. The modification of Sistrunk's procedure remains the main surgical technique that can provides good results with low rate of complication (3.03%) and recurrence (0%) as shown of our collecting data.

A Case of Pyriform Sinus Fistula Concurrent with Papillary Thyroid Carcinoma in a 72-Year-Old Patient

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.

Hypoxic conditions alter developing branchial arch-derived structures in zebrafish

Background: Previous epidemiological findings have implicated hypoxia as a risk factor for craniofacial defects including cleft lip, microtia and branchial arch anomalies. This study tests the hypothesis that hypoxic exposure results in craniofacial shape variation in a zebrafish model. Methods: Three sets of zebrafish embryos were raised in uniform conditions with the exception of dissolved oxygen level. At 24 hours past fertilization (hpf) embryos were placed in hypoxic conditions (70% or 50% dissolved oxygen tank water) and compared to unexposed control embryos. After 24 hours of exposure to hypoxia, the embryos were incubated under normoxia. Larvae were collected at 5 days post fertilization (dpf) and stained for cartilage. Images were taken of each specimen and subsequently landmarked to capture viscerocranial morphology. A geometric morphometric analysis was performed to compare shape variation across groups. Results: The mean branchial arch shape of each exposure group was significantly different from controls (p<0.001). Principal components analysis revealed a clear separation of the three groups, with controls at one end of the shape spectrum, the 50% hypoxia group at the other end, and the 70% hypoxia group spanning the variation in between. Conclusions: This experiment shows that hypoxia exposure at 24hpf is capable of affecting craniofacial shape in a dose-dependent manner. These results may have implications not only for high altitude fetal health, but other environments, behaviors and genes that affect fetal oxygen delivery.

Fourth Branchial Anomaly Presenting with a Lateral Neck Mass in a Neonate

Branchial cleft anomalies are an important differential diagnosis in congenital neck masses in infants. The third and fourth branchial anomalies are rare branchial cleft anomalies, which are hard to differentiate. We report here an uncommon case of the fourth branchial anomaly that was presented as an asymptomatic neck mass in a neonate.

English

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.

Management of congenital neck lesions in children

A retrospective clinical trial was conducted to evaluate the clinical features and treatment outcomes and to determine the incidence of complications in children with congenital neck lesions (CNLs) treated at our institution with a special emphasis on thyroglossal duct remnant (TGDR), branchial cleft anomaly (BCA), and dermoid cyst (DC). This series had 72 patients with CNL. The diagnosis of CNL was made by physical examination, ultrasound (US) in most, and for a potential extension of the mass computed tomography (CT) or magnetic resonance imaging (MRI) in a few patients and confirmed by histopathological examination in all of the children. Of the patients in this series, 39 (54.2%) children had thyroglossal duct remnant (TGDR). The most common surgical procedure (n=36) in these children was Sistrunk's procedure. Four children (10.3%) with TGDR had associated anomalies including Turner syndrome and Morgagni hernia. During the study period, 25 (34.7%) children with branchial cleft anomaly (BCA) were treated and most of these were second branchial anomalies. There were eight children (11.1%) with dermoid cyst (DC). TGDR is the most common CNL and is presented clinically rather late with regard to BCA and DC in this series. Surgical resection is optimal choice of therapy in CNLs not only for aesthetic reasons but also for the recurrent infections and the potential danger of malignancy. Definitive surgery may be associated with high morbidity, especially recurrence. Associated anomalies may be observed, especially in children with TGDR. Although the Sistrunk's procedure is a safe and successful technique, life-threatening complications should also be kept in mind during the management of these lesions and early and adequate surgical treatment is suggested.

First branchial cleft fistula: case report and literature review

AbstractFirst branchial cleft anomalies are rare congenital malformations of the head and neck region. These anomalies account for less than 1% of all branchial anomalies. They are frequently misdiagnosed and hence mismanaged. The lesions are variable in presentation and course, making radiographic imaging techniques such as computed tomographic fistulography and magnetic resonance imaging the best first step in managing such cases. We present a 17‐year‐old Caucasian female who had a first branchial cleft fistula communicating between the right external auditory canal and the angle of the mandible. Surgical exploration revealed a completely subcutaneous tract not involving the parotid gland parenchyma, which makes this case even more significant.

Thyroidal abscesses in third and fourth branchial anomalies: not only a paediatric diagnosis

Acute suppurative thyroiditis and recurrent abscess formation due to third and fourth branchial anomalies typically present in children. However, thyroid abscesses in branchial anomalies may occur in adulthood as well. Failure to recognize and delayed drainage of a neck abscess may lead to a fulminant life-threatening outcome. This is a retrospective case series. The study group comprised all patients presenting over a 12-month period from January to December 2012 with thyroid abscesses and a branchial cleft anomaly in two centres, one adult and the other paediatric. Patient demographics, clinical presentation, imaging, surgical management, definitive histology and outcomes were documented. Five patients were identified with a history of thyroid abscesses. Only one was a child (aged 9 years) with the other four being adults (aged 20, 34, 37 and 41 years). All patients had third or fourth left branchial cleft anomalies, presenting as suppurative thyroiditis with a left-sided thyroid abscess. Management options ranged from abscess drainage on initial presentation, primary thyroid lobectomy or delayed thyroid lobectomy following abscess drainage. Acute suppurative thyroidits and thyroid abscesses is not just a paediatric diagnosis but may present at any age. In both children and adults, a thyroid abscess almost always arises from branchial cleft anomalies.

Selective Neck Dissection: A Novel Technique for Second Branchial Arch Anomalies

ABSTRACT 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.

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.