Branchial Cleft Anomalies Research Articles

First branchial cleft fistula: a case report

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

Clarifying Misleading Lumps and Sinuses in the Newborn.

Neonates often have congenital lumps or sinuses. It is expected that pediatricians will distinguish those with important physiologic implications from those without. Accurate understanding of these lesions is important for the practitioner to avoid unnecessary tests and anxiety and to ensure that seemingly benign lesions with important implications are addressed in a timely manner. This review aims to clarify the consequences of some lesions that can easily be misinterpreted, offering guidance in the initial management of patients with congenital lumps or sinuses. We address several lesions that can easily be misconstrued, including wattles, preauricular lesions, sacral sinuses, second branchial cleft anomalies, torticollis, and dermoid cysts.

Incidence and Outcome of Second Branchial Cleft Anomalies: A Three Years Experience and Appreciation

Background: Second branchial cleft anomalies are remarkable of all other inborn errors of branchial apparatus. As a congenital, it may be presented at birth but usually manifests in early teenagers and young adults. Like all other inborn errors, it is better to correct earlier before suffering from any complications. Methods: It is a cohort retrospective study of 15 cases in the Department of Otolaryngology and Head-Neck Surgery, Cumilla Medical College, and Cumilla Medical Centre, Bangladesh, from 01 July 2016 to 31 June 2019. Results: Incidence of anomalies among routine ENT operations was 0.21%. Of 15, the cyst was 04(26.27%), sinus was 10(66.66%), the fistula was 1(6.67%), children were 09(60%), the adult was 6(40%), and young adult and an early teenager were 07(46.66%), male was 11(75.33%), and females were 04(26.27%), bilateral were 2(13.33%), unilateral was 13(86.67%) in which right was 10(76.33%), and left was 03(23.08%), painful cyst with abscess was 01(6.67%), the painless cyst was 03(20%), sinus with the mucoid fluid discharge was 07(46.68%), painful sinus with mucopurulent discharge and skin-excoriation was 03(20%), painful fistula with mucopurulent discharge and skin-excoriation was 01(6.67%), post-operative wound infection was 2(13.33%). Recurrence and the branchio-oto-renal syndrome were absent in our study.

Midline cervical cleft: a case report

A 14-year-old boy presented with complaints of a sinus in the middle of neck, with mucoid discharge present since birth. MRI sinogram along with MRI neck was taken which revealed a sinus tract opening in midline, extending posteriorly and traversing inferiorly to end blindly above sternum. Patient was planned for an elective excision of sinus tract, with z-plasty for decreased scarring. Congenital midline cervical cleft is a rare entity that was first described in 1924. Subsequently there have been fewer than 100 cases reported in medical literature. It typically manifests at birth as a cleft at level of suprasternal notch with a pseudonipple above it. Pathogenesis of congenital midline cervical clefts remains speculative. Differential diagnosis includes thyroglossal duct cysts or branchial cleft anomalies.

Branchial Cysts in Quito, Ecuador.

Introduction Branchial cleft anomalies are the second most common congenital anomaly in children. However, some lesions may not develop clinically and are not diagnosed until adulthood. The recent literature of branchial cysts (BCs) in the adult population is really scanty. For this reason, we analyzed the clinical and surgical management of the adult population treated for a BC at a tertiary care general hospital. Methods A retrospective review of the clinical records of all the patients with histological diagnosis of BC who were surgically treated at the Social Security Hospital in Quito, Ecuador, was performed. Fifty-one patients (27 women) with congenital anomalies of the 2 nd (43 patients with cysts) and 3 rd (6 patients with cysts and 2 with fistula) branchial arches were diagnosed and treated. Diagnosis was made on clinical grounds and by computed tomography scan. Results The 43 patients with a 2 nd branchial cleft cyst underwent complete surgical excision through a wide mid-neck transverse cervicotomy. The 6 cases of 3 rd branchial cleft cyst underwent surgical resection through a lower-neck transverse incision, and the 2 patients with clinical fistula in the lower aspect of the neck were operated on via an elliptical incision around this external fistula opening. Postoperative evolution was uneventful in all patients. Conclusions Branchial cysts can occasionally be diagnosed in adult patients in the setting of a general hospital population. A correct clinical and imaging assessment was diagnostic in most patients. Complete surgical resection was curative in all our patients, and postoperative complications were exceptional.

Unusual presentation of a first Branchial cleft cyst associated with an abnormal bony canal -a case report-

BackgroundFirst branchial cleft anomalies are rare, accounting for only 10% of all branchial cleft anomalies. We report an even more rare and unique case of a branchial cleft cyst with features of both first and second arch derivatives.Case presentationA 6-year-old boy presented to us with a left conductive hearing loss associated with pre-tympanic keratin debris and an ipsilateral painful cervical mass. He had a past medical history of left ear surgery for presumed cholesteatoma 2 years prior and left neck abscess drainage 6 months prior. CT and MRI revealed a lesion originating in the external auditory canal and extending cervically through a bony canal located medial to the facial nerve and terminating as a parapharyngeal cyst. The complete removal was accomplished in one surgical stage consisting of three distinct steps: robotic assisted transoral resection of the pharyngeal cyst, an endaural approach and a parotidectomy approach.ConclusionWe believe that our detailed description of this rare first branchial cleft cyst with pharyngeal extension, possibly a hybrid case between a first and second branchial cyst, can serve as a valuable tool to Otolaryngologists – Head and Neck Surgeons who come across a similar unusual presentations.

Bilateral second branchial cleft anomaly: Diagnosed on computed tomographic fistulography

Bilateral second branchial cleft anomaly: Diagnosed on computed tomographic fistulography

An Unusual Case of Bilateral First Branchial Cleft Anomaly: A Case Report with Review of Literature.

We report a case of 32year old male who presented to us with first branchial cleft anomalies on both sides with discharging cutaneous openings on the right side; and cystic swelling on the left side. High index of suspicion is required in such congenital cysts. Surgical exploration and excision is the definitive treatment of a collaural fistula.

Three cases of branchial fistula in one family: a rare presentation

<p>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.</p>

Recurrent collaural fistula: a challenge

Collaural fistula or cervico-aural fistula is a rare anomaly accounting for less than 8% of first branchial cleft anomaly. Aberrant development of first branchial cleft may lead to formation of a cervical cyst or sinus in the region of ear. We reported a case of a 4 year old girl who presented with recurrent swelling in right infra-auricular region from 6 months of age. She had undergone incision and drainage of the swelling three times at various peripheral hospitals over past 3.5 years. On examination two sinuses were noticed surrounding lobule of right pinna of which one was present posterior to the lobule and second was present just above lobule at lateral most part of conchal cartilage. Diagnosis of recurrent infected collaural fistula requires detailed clinical examination for presence of multiple sinuses surrounding the lobule and external auditory canal. In case of non visibility of sinus in external auditory canal, microscopic examination should be done. CT sonogram and MRI are useful diagnostic tools for recurrent infected fistulas. Surgical excision of whole tract is the definitive treatment but superficial parotidectomy along with it can reduce chances of recurrence significantly. If more than 30% of the circumference of external auditory canal is involved then split skin grafting is required for the coverage. Diagnosis of collaural fistula should be kept in mind whenever there is recurrent postaural or infra-aural swelling mainly in paediatric patients. Superficial parotidectomy along with complete excision reduces the recurrence rate. Facial nerve palsy can be a devastating complication of surgery.

Sternoclavicular sinus: Case series and literature review of a rare head and neck lesion

ObjectiveThe objective of this study is to describe the clinical and pathologic features of a rare congenital neck anomaly, a sternoclavicular sinus, and review the literature on this topic. Study designThis study is a retrospective case series of four subjects diagnosed with a sternoclavicular sinus. MethodsPatients with a congenital neck anomaly, distinct from common branchial cleft anomalies, were identified through a 10-year retrospective chart review of a tertiary care pediatric otolaryngology practice. ResultsWe describe four patients with a congenital neck anomaly with common features of a sternoclavicular anomaly. All patients presented with a superficial neck anomaly adjacent to the sternoclavicular joint. Surgical excision through an external approach was successfully performed in three out of the four patients with subsequent resolution of symptoms. The literature review compiles all the cases presented. Theories on embryologic origin include incomplete fusion of sternum and clavicle or unusual remnant of a fourth branchial cleft. Commonalities include left sided predominance, squamous epithelium lined sinus tract ending at the sternoclavicular junction, and successful surgical excision in almost all cases. ConclusionA sternoclavicular sinus is a rarely described congenital neck abnormality. Presentation and management is similar to branchial cleft anomaly but with a distinct anatomical pathway that is important for surgeons to recognize. Level of evidenceThis manuscript presents a case series. The level of evidence proposed is Level 4.

Unusual Conditions Impairing Saliva Secretion: Developmental Anomalies of Salivary Glands.

Salivary glands (SG) arise from ectodermal tissue between 6 and 12th weeks of intrauterine life through finely regulated epithelial-mesenchymal interactions. For this reason, different types of structural congenital anomalies, ranging from asymptomatic anatomical variants to alterations associated with syndromic conditions, have been described. Notable glandular parenchyma anomalies are the SG aplasia and the ectopic SG tissue. Major SG aplasia is a developmental anomaly, leading to variable degrees of xerostomia, and oral dryness. Ectopic SG tissue can occur as accessory gland tissue, salivary tissue associated with branchial cleft anomalies, or true heterotopic SG tissue. Among salivary ducts anomalies, congenital atresia is a rare developmental anomaly due to duct canalization failure in oral cavity, lead to salivary retention posterior to the imperforate orifice. Accessory ducts originate from the invagination of the developing duct in two places or from the premature ventral branching of the main duct. Heterotopic ducts may arise from glandular bud positioned in an anomalous site lateral to the stomodeum or from the failure of the intraoral groove development, hindering their proximal canalization. These anomalies require multidisciplinary approach to diagnosis and treatment. While ectopic or accessory SG tissue/ducts often do not require any treatment, patients with SG aplasia could benefit from strategies for restoring SG function. This article attempts to review the literature on SG parenchyma and ducts anomalies in head and neck region providing clinicians with a comprehensive range of clinical phenotypes and possible future applications of bioengineered therapies for next-generation of regenerative medicine.

The Microbiology Characteristics of Infected Branchial Cleft Anomalies.

ObjectivesTo investigate the microbiology profile of infected branchial cleft anomalies compared to deep neck infection and explore the influence of age on culture findings.Study DesignA retrospective case control study.SettingA single tertiary medical center.Subjects and MethodsPatients treated for branchial cleft anomalies between 2006 and 2016 were included. Demographic data, disease and treatment parameters, and microbiology profile, including bacteria classification, antibiotics resistance patterns, and number of pathogens, were analyzed.ResultsOf 278 cases treated for branchial cleft anomalies, we have analyzed 69 cases with infection and pathogen identification. The proportion of monobacterial infections was higher (70.6% vs 44.3%; P = .003; odds ratio [OR], 3.02) and the proportion of Streptococcus species infection was lower (48.9% vs 77.2%; P = .001; OR, 0.282) among the infected branchial cleft cases compared to deep neck infections. Anaerobic bacteria infection did not differ between groups (17.8% and 16.5%, respectively). There was a nonsignificant tendency toward more resistant bacterial strains among the infected branchial clefts (15.6% vs 6.3%; P = .118; OR, 2.726). There was no difference between the bacterial profile of patients younger or older than 16 years.ConclusionsThe microbiology profile of infected branchial cleft anomalies is not age related and is different from that of deep neck infections. We demonstrate a relatively high frequency of monobacterial infections, relatively lower streptococcal infection rates, and a substantial contribution by resistant species and anaerobes. Empiric antibiotic treatment should cover Streptococcus species, including penicillin-resistant species, as well as clindamycin-resistant anaerobes.

Morphology and Clinical Presentation of Duplicate External Auditory Canal-Literature Review

First branchial cleft anomalies (FBCA) such as duplication of the external auditory canal are due to failure to obliterate the ventral portion of the 1st cleft while external auditory canal stenosis and atresia are abnormalities of the dorsal portion.The annual incidence is 1:1000,000 and it’s been found to be commoner among females 69% than males 31% with the left ear most affected.FBCA can present as fistula, sinus or cysts located around/along the EAC, periauricular region and the neck above the hyoid bone. Keywords : Duplicate External auditory canal,First branchial anomaly,auditory canal stenosis DOI : 10.7176/JHMN/64-04 Publication date :July 31 st 2019

Second branchial cleft anomalies: a review of 12 cases

<p class="abstract"><strong>Background:</strong> 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.</p><p class="abstract"><strong>Methods:</strong> Thorough history was taken and examination was done and these cases are investigated with CT scan, MRI scan and treated with surgical excision. </p><p class="abstract"><strong>Results:</strong> 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.</p><p class="abstract"><strong>Conclusions:</strong> 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.</p>

Fourth branchial cleft cyst and congenital absence of the contralateral thyroid lobe

Abstract 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.

Congenital microtia with aural atresia or stenosis accompany with first branchial cleft anomaly: report of 5 cases

Objective: To summarize the experience of the diagnosis, treatment and effects of the cases with coexistence of first branchial cleft anomaly(FBCA) and microtia with congenital aural atresia or stenosis(external auditory canal stenosis, EACS). Method: This was a retrospective study. The clinical data of 5 patients with microtia and EACS in Beijing Tongren Hospital of Capital Medical University from October 2015 to March 2018 were collected, including 3 males and 2 females, aged from 5 to 28 years. The clinical characteristics, imaging findings, treatment methods and effects of 5 patients were analyzed. Result: The 5 cases were all coexistence of EACS and FBCA, three of who associated with cholesteatoma of external auditory canal. CT showed external auditory canal stenosis with soft tissue shadow, sometimes gas or bone septum found inside, filling in the external auditory canal, combined with canal bone destruction irregularly. All patients underwent surgical resection of FBCA, 3 patients accompanied by cholesteatoma resection and canalplasty. The postoperative follow-up ranged from 10 to 39 months, and no recurrence of infection was observed. Conclusions: EACS and FBCA both result from maldevelopment of the first branchial cleft. These two malformations, FBCA and EACS with or without cholesteatoma, can occur simultaneously, in which situation CT shows external auditory canal stenosis with soft tissue shadow inside. These patients underwent surgical resection of FBCA combined with cholesteatoma resection with good result.

Differences in management outcome for first branchial cleft anomalies: A comparison of infants and toddlers to older children

ObjectiveFirst branchial cleft anomalies (FBCAs) are rare and often misdiagnosed, which can delay proper management and increase surgical risks. Complete excision often requires parotidectomy with facial nerve dissection. The literature reports that younger patients more often have lesions deep to the nerve with higher rates of nerve injury. We hypothesized that the rate of nerve injury and complications in children with FBCAs was not different in those ≤2 years of age compared to those >2 years of age. MethodsRetrospective review of pediatric patients who underwent resection of histopathologically confirmed FBCAs between 2007 and 2017 at a tertiary care, pediatric hospital. Presenting symptoms, lesion classification, prior procedures, imaging techniques, extent of surgery performed, facial nerve position, and complications were reviewed and compared between patients ≤2 years of age and >2 years of age at time of surgery. Results43 cases of FBCAs were included in the study: 12 in the younger group and 31 in the older group. There was no difference between groups regarding the presenting symptoms, gender breakdown, lesion classification, prior procedures performed, or extent of surgery. Lesions were more commonly deep to or running between branches of the facial nerve in the younger group (33.3% vs 9.7%, p = .0496). Rates of postoperative complications and facial nerve weakness were comparable between the younger and older groups (8.3% vs 25.8%, p = .206; 25.0% vs 16.1%, p = .503). In combining the age groups, FBCAs located deep to the facial nerve had increased risk of nerve weakness postoperatively (RR 7.2) and those with a history of prior incision and drainage or resection had increased risk of postoperative complications (RR 2.36). Imaging was obtained on all subjects with accuracy rates of 80–100%. ConclusionPresenting characteristics of FBCAs in patients ≤2 years of age and >2 years of age are comparable, but lesions in younger subjects had a greater likelihood of being deep to or coursing between branches of the facial nerve. However, the rates of facial nerve injury and postoperative complications are comparable in younger and older children, owing likely to accurate preoperative imaging and appropriate surgical planning.

Second branchial cleft fistula in a child with genetically confirmed branchio-oto-renal (BOR) syndrome

Branchial cleft anomalies constitute 32% to 45% of all neck pathologies in the pediatric population. These disorders may be a part of a branchio-oto-renal syndrome (Melnick-Fraser syndrome), characterized by branchial arch abnormalities, preauricular pits, hearing impairment, and various types of renal anomalies. Usually, the treatment of a branchial fistula does not necessarily require extensive diagnostics. However, in patients with a congenital branchial cleft fistula associated with ear anomalies recognized during a physical examination, and history of hearing loss or similar findings in other relatives, the additional analysis should be carried out to eliminate the possibility of BOR syndrome. The aim of this study is to present a rare case of a male patient presenting complete second branchial cleft fistula, diagnosed as having BOR syndrome.

Importance and Impact of Appropriate Radiology in the Management of Branchial Cleft Anomalies.

Branchial cleft anomalies are common differential diagnosis of neck masses. However, depending on the origin (1st, 2nd, 3rd or 4th arch), this pathology presents at different locations as cyst, sinus and fistula. Incomplete excision or incision and drainage of infected branchial cleft anomalies (cystic presentation) can lead to multiple recurrences. Appropriate radiology is imperative to make a correct diagnosis and to achieve complete excision to prevent recurrence. Our case series highlights the mode of presentation, appropriate radiology and management for each type of branchial cleft anomalies. Data of 27 patients with the diagnosis of branchial cleft anomaly and treated in the department of Otolaryngology-Head and Neck Surgery in a tertiary care referral centre in last 5years was analysed retrospectively. Demographic data in terms of age, sex, laterality, clinical presentation, duration of symptoms and radiological investigations if any were recorded. The mean age at presentation was 22.1years in this series of 27 cases including six (22.2%) recurrent cases. Most common clinical presentation was discharging sinus (59.25%) followed by cystic neck swelling (33.3%). Second branchial cleft anomalies were commonest (51.8%) followed by first branchial cleft anomalies (29.6%). Appropriate radiology was available for 17 (62.9%) patients. Branchial cleft anomaly is an important differential diagnosis of neck mass. Appropriate radiology helps in complete excision and prevents recurrences. Recurrent cases pose surgical challenge owing to fibrosis from previous surgery which further increases the chances of incomplete excision.