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Year : 2018  |  Volume : 4  |  Issue : 1  |  Page : 44-47

Branchiootic Syndrome − Rare Case Reports of Patients With Complete Bilateral Branchial Fistulae

1 Department of ENT, Northern Railway Central Hospital, New Delhi, India
2 Department of ENT and Head & Neck Surgery, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India
3 Department of Otorhinolaryngology and Head & Neck Surgery, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India

Date of Web Publication27-Mar-2018

Correspondence Address:
Divya Gupta
66, Raj Nagar, Pitam Pura, Delhi 110034
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mamcjms.mamcjms_78_17

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Branchial arch anomalies are one of the most common congenital anomalies and are usually unilateral in nature. The bilateral occurrence of more than one anomaly is not only rare, but its presence along with hearing loss results in branchiootic syndrome, which has important clinical and genetic implications. Branchiootic syndrome is a part of the spectrum of branchiootorenal syndrome, which is a rare autosomal dominant condition with incomplete penetrance characterized by the malformations of the external, middle, and inner ear, hearing loss, branchial fistulae, and renal abnormalities. We shall be discussing two such rare cases in this article.

Keywords: Branchial arch, branchial fistula, branchiootic syndrome, branchiootorenal syndrome, congenital anomaly, preauricular sinus

How to cite this article:
Gupta D, Dhandapani S, Singh I, Passey JC. Branchiootic Syndrome − Rare Case Reports of Patients With Complete Bilateral Branchial Fistulae. MAMC J Med Sci 2018;4:44-7

How to cite this URL:
Gupta D, Dhandapani S, Singh I, Passey JC. Branchiootic Syndrome − Rare Case Reports of Patients With Complete Bilateral Branchial Fistulae. MAMC J Med Sci [serial online] 2018 [cited 2020 Aug 4];4:44-7. Available from: http://www.mamcjms.in/text.asp?2018/4/1/44/228658

  Introduction Top

Branchial anomalies, which include branchial cysts, sinuses, and fistulas, account for 20% of the pediatric congenital head and neck lesions.[1] Bilateral cases constitute only 2–3% of all the reported cases, and the presence of complete bilateral branchial fistulae is even rarer.[2] We report two such rare cases in this article. Both these children had simultaneous bilateral second branchial arch complete fistulae and bilateral congenital preauricular sinus. They also had associated hearing loss without any family history, thereby categorizing them as having branchiootic syndrome, the knowledge of which is essential to rule out other associated anomalies, most notably renal malformations.

  Case Reports Top

Case 1

A five-year-old boy presented with the presence of white, non-foul smelling discharge from pinpoint openings on both the sides of the neck. Inquires regarding his history revealed that the boy had decreased hearing as well. On examination, the patient had bilateral 0.1 cm × 0.1 cm openings at the junction of the upper one-third and lower two-thirds of the anterior border of the sternocleidomastoid (SCM). The patient also had bilateral preauricular sinuses [[Figure 1]a and [Figure 1]b]. The tympanic membranes were normal. Audiological tests revealed bilateral severe sensorineural hearing loss. Ultrasound abdomen did not reveal any renal abnormality. Computed tomography fistulogram (CT fistulogram) revealed fistulae on both the sides of the neck with external cutaneous opening and internal opening in the tonsillar region [[Figure 1]c]. Surgery was performed to excise both the branchial fistulas, and the terminal portion of the tract were ligated after confirming the presence of an inner opening in the pharynx. The patient underwent cochlear implantation subsequently after 3 months and is doing well 7 months post-fistulectomy surgery. The family has been counseled.
Figure 1: (a and b) Clinical photograph of the patient showing marked bilateral preauricular sinuses and bilateral branchial fistulae. (c) CT fistulogram showing contrast accumulation in the oropharynx, shown by arrow, on injection of dye through the external opening in the neck

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Case 2

A 15-year-old boy presented to ENT OPD with a history of discharge from the left side of his lower neck since birth. He had similar complaints from the right side as well, which subsided after a surgery was performed a year earlier at this hospital. The discharge was watery, frothy, non-blood stained, and non-foul smelling. There was no history of fever, recurrent upper respiratory tract infections, or dental/jaw infections. Examination revealed 0.1 cm × 0.1 cm opening at the junction of the upper two-third and lower one-third of the anterior border of the left SCM. The right side revealed two linear horizontal scars (step-ladder pattern) from a previous surgery in the neck [[Figure 2]a and [Figure 2]b]. The patient had bilateral preauricular sinuses along with bat ears and showed moderate conductive hearing loss in both the sides. The tympanic membrane was normal bilaterally. CT fistulogram revealed a fistulous tract with a cutaneous opening in the left side of the neck and an inner opening in the hypopharynx. The tract was excised under general anesthesia, and the terminal part was ligated. The patient is well after three years of surgery, but refuses any further investigations and management for hearing loss. Ultrasound abdomen did not reveal any renal abnormality. The family has been counseled.
Figure 2: Clinical photograph of the second patient showing (a) a preauricular sinus − marked by circle − and healed step-ladder incision − marked by black arrows on the right side and (b) a left preauricular sinus and a cutaneous opening of the left branchial fistula

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  Discussion Top

The branchial apparatus consists of arches, grooves, and clefts and was first described by Von Baer. Pediatric branchial anomalies are the result of development failures in the involution of the branchial apparatus during early gestational period. Most of the earlier published work describes the development and physiology of abnormal states of various types of branchial anomalies; however, in this article, we would contain ourselves to discussing salient essential points in the wholesome management of the patient, both surgically and clinically.

Approximately 90% of them are second arch anomalies.[3] Bailey classified second branchial cleft anomalies into the following four types: (a) type I are located deep in the platysma and anterior to the SCM; (b) type II lie anterior to the SCM, lateral to the carotid space, and posterior to the submandibular gland; (c) type III extend medially between the internal and external carotid arteries to the lateral pharyngeal wall; and (d) type IV open into the pharynx.[4] Both our patients belonged to type IV category and are rare examples of true complete branchial fistula. Maddalozzo et al.[3] found only 13.5% second branchial cleft anomalies to be complete. In addition, Ang et al.[5] in their comprehensive literature review found its incidence to be rare in clinical practice. The most common external location of the second branchial fistulae is at the junction of the lower and middle thirds of the anterior border of the SCM muscle.[6] In one of our cases, surprisingly, the location was at the junction of the upper and middle thirds of the SCM.

Both these patients had bilateral preauricular sinuses as well. It is important to understand that these are not true first branchial cleft anomalies. Preauricular sinuses arise from abnormalities in auricular development, which involves six hillocks or tubercles in the junctional region of the first and second branchial arches. It can be potentially dangerous to confuse a first branchial cleft anomaly with preauricular sinuses, because this may result in facial nerve injury or incomplete excision.[7]

An association between preauricular sinuses, hearing impairment, and branchial fistulae exists, which has been labeled as branchiootic syndrome.[8] However, it should not be forgotten that it is a miniature form of earpits deafness syndrome, known as branchialotorenal (BOR) syndrome, an autosomal dominant disorder in which the affected individuals may have hearing loss, preauricular pits, structural aural defects, lacrimal duct stenosis, branchial fistulae or cysts of the second branchial arch, and renal anomalies ranging from mild hypoplasia to complete absence.[9] The clinical presentation of BOR varies, because penetration is incomplete despite being high, thereby resulting in variable expressivity between and within affected families.[10] It is very important to provide genetic counseling to family members with one or more BOR features. A person with a triad of preauricular sinuses–branchial clefts–hearing loss (P-F-D) is very likely to be a carrier of the mutant gene for this syndrome. Hence, each of the children runs a 50% risk of inheriting this disorder.[9]

The diagnosis of branchial cleft fistula is made on the basis of clinical examination; however, many imaging modalities such as fistulogram, computed tomography (CT) scan, magnetic resonance imaging (MRI), and ultrasonography of the neck are used to confirm the nature of the cause of disease, define anatomy, and, most importantly, identify the fistulous or sinus tract.[7],[11] CT fistulogram as in our cases is possibly the best modality available.

The treatment of choice for a branchial fistula is the surgical excision of the tract and the terminal ligation of its pharyngeal attachment. The standard method is the use of step-ladder incision. Others have also described hockey stick incision, two separate transverse incisions, and wide transverse cervicotomy incision to circumvent the disadvantage of multiple incisions, difficult dissection underneath the flap, and the risk of skin necrosis due to decreased vascularity posed by step-ladder incision.[12] In case of true second branchial cleft complete fistulae with inner opening in the lateral pharynx near the inferior pole of the ipsilateral tonsil confirmed intraoperatively by direct laryngoscopy, an added tonsillectomy does not render lesser chances of recurrence. A complete surgical excision alone with the ligation of the terminal attachment to the pharynx gives good results.[2],[6] Maddalozzo et al.[3] advise the use of the hyoid bone as a landmark while excising the second branchial cleft fistulae. They opine that because the tract passes deep to the muscular structures of its branchial arch (platysma), and over its cartilaginous derivative (hyoid) to enter the tonsillar fossa, which is the derivative of the second pouch, the surest means of complete transaction is by ligating the terminal end of the tract cephalad to the hyoid bone.

  Conclusion Top

It is essential to understand the development of the branchial apparatus to understand the anatomical course of various anomalies and, hence, their surgical approach. A careful perioperative anatomical delineation using CT, MRI, or fistulogram eases the surgical understanding. In the presence of a triad of ear deformities, branchial anomalies in the neck, and hearing loss, it is necessary to rule out renal anomalies and provide genetic counseling to family members.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Schroeder JW Jr, Mohyuddin N, Maddalozzo J. Branchial anomalies in the pediatric population. Otolaryngol Head Neck Surg 2007;137:289-95.  Back to cited text no. 1
Ford GR, Balakrishnan A, Evans JN, Bailey CM. Branchial cleft and pouch anomalies. J Laryngol Otol 1992;106:137-43.  Back to cited text no. 2
Maddalozzo J, Rastatter JC, Dreyfuss HF, Jaffar R, Bhushan B. The second branchial cleft fistula. Int J Pediatr Otorhinolaryngol 2012;76:1042-5.  Back to cited text no. 3
Bailey H. Branchial Cysts and Other Essays on Surgical Subjects in the Facio-Cervical Region. London: H.K. Lewis & Company; 1929.  Back to cited text no. 4
Ang AH, Pang KP, Tan LK. Complete branchial cleft fistula. Case report and review of literature. Ann Otol Rhinol Laryngol 2001;110:1077-9.  Back to cited text no. 5
Cheng J, Elden L. Management of pediatric second branchial fistulae: Is tonsillectomy necessary? Int J Pediatr Otorhinolaryngol 2012;76:1601-3.  Back to cited text no. 6
Teo NW, Ibrahim SI, Tan KK. Distribution of branchial anomalies in a pediatric Asian population. Singapore Med J 2015;56:203-7.  Back to cited text no. 7
Amer I, Falzon A, Choudhary N, Ghufoor K. Branchio-otic syndrome − A clinical case report and review of the literature. J Pediatr Surg 2012;47:1604-6.  Back to cited text no. 8
Cremers CW, Noord MF. The earpits-deafness syndrome. Clinical and genetic aspects. Int J Pediatr Otorhinolaryngol 1980;2:309-22.  Back to cited text no. 9
Konig R, Fuchs S, Dukiet C. Branchio-oto-renal syndrome: Variable expressivity in a five-generation pedigree. Eur J Pediatr 1994;153:446-50.  Back to cited text no. 10
Goff CJ, Allred C, Glade RS. Current management of congenital branchial cleft cysts, sinuses and fistulae. Curr Opin Otolaryngol Head Neck Surg 2012;20:533-9.  Back to cited text no. 11
Agaton-Bonilla FC, Gay-Escoda C. Diagnosis and treatment of branchial cleft cysts and fistulae. A retrospective study of 183 patients. Int J Oral Maxillofac Surg 1996;25:449-52.  Back to cited text no. 12


  [Figure 1], [Figure 2]


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