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Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome.

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

Introduction

Compared with branchial cysts and sinuses, branchial fistulas are quite rare. Even more rare are bilateral second branchial fistulas coexisting with first branchial anomalies; to the best of our knowledge, only 10 such cases have been previously reported in the English-language literature. (1-8) Of these 10 cases, 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic syndrome, (5,7) 2 had nonfamilial branchio-otic syndrome, (1,4) and 1 had nonfamilial branchio-oto-renal syndrome (3) (table). We describe what we believe is only the 11th case of bilateral second branchial fistulas with coexisting first branchial anomalies, and the third such case associated with branchio-otic syndrome in a patient with no family history of branchial anomalies.

Case report

A 6-year-old girl was referred to our ENT clinic for evaluation of persistent neck drainage (figure 1). She had been born full-term to a 37-year-old G4P3 (3003) mother; there were no fetal or maternal complications, and no maternal illness, prenatal drug intake, or trauma.

Soon after the child's birth, a clear serous discharge was noticed draining from a pinpoint neck opening anterior to each sternocleidomastoid muscle halfway between the hyoid bone and the clavicle. Neither of the patient's parents nor any other family member had a history of a similar condition (alternate paternity and undisclosed adoption were ruled out).

At the age of 3 years, the patient had exhibited signs of speech delay. She was examined and found to have a moderately severe hearing loss, and she was fitted with bilateral hearing aids. She was also prescribed corrective lenses for congenital left esotropia.

The draining neck puncta persisted, and the patient underwent fistulography. According to the fistulogram, the right tract was continuous with the oropharyngeal area and the left punctum showed pooling of contrast material in the cervical area (figure 2). Examination further revealed a preauricular sinus on the right (figure 3). There were no palpable masses in the neck. A renal workup was negative, and the patient was cleared for surgery with a diagnosis of nonfamilial branchio-otic syndrome.

The anterior neck puncta were cannulated with 2-0 nylon suture. The suture from the right tract exited posterior to the right tonsil and anterior to the posterior pillar (figure 4). However, the suture in the left punctum could not be inserted beyond 2.5 cm, despite multiple attempts. Fish-mouth incisions were made around both puncta, and then wider stepladder transverse cervical incisions were made superiorly at the level of the carotid bifurcations.

[FIGURE 1 OMITTED]

On the right, the tract surrounding the nylon suture was easily traced through the carotid bifurcation toward the tonsillar fossa. On the left, the tract initially terminated into a cyst, but a more proximal tract connected to the cyst was identified and traced through the carotid bifurcation to a palpable pinpoint dimple in the contralateral tonsillar fossa. Both fistulas were completely excised (figure 5), and the patient experienced good healing and no recurrence on follow-up.

Discussion

Branchio-oto-renal syndrome is an autosomal dominant disorder characterized bybranchial anomalies, auricular malformations, and renal anomalies. (9) In the absence of structural renal anomalies, branchio-otic syndrome is considered. About 90% of patients with branchio-oto-renal syndrome have an affected parent, while the other 10% of cases represent de novo mutations. (9)

In the absence of a family history, various major and minor criteria are used to establish a diagnosis of branchio-oto-renal syndrome. These criteria are classified as major and minor:

* The four major criteria developed by Chang et al include (1) branchial anomalies, (2) deafness, (3) pre-auricular pitting, and (4) a renal abnormality. (9)

* The five minor criteria are (1) external ear anomalies, (2) middle ear anomalies, (3) inner ear anomalies, (4) preauricular tags, and (5) other facial asymmetry or palatal abnormality. (9)

[FIGURE 2 OMITTED]

[FIGURE 3 OMITTED]

To be diagnosed with branchio-oto-renal syndrome, a patient must exhibit either (1) three or more major criteria, (2) two major and two or more minor criteria, or (3) one major criterion and have an affected first-degree relative who meets the criteria for branchio-oto-renal syndrome. (9) Our patient satisfied three major criteria: coexisting first and second branchial arch anomalies and deafness. Since she had no structural renal anomaly, she was diagnosed with branchio-otic syndrome. (Possible middle and inner ear anomalies were not ruled out by CT because of financial constraints.)

Branchial anomalies are caused by incomplete obliteration of the branchial apparatus during fetal development. The branchial apparatus develops during the second to sixth or seventh fetal weeks. Head and neck structures originate in six mesodermal arches, which are separated externally by ectoderm-lined grooves and internally by endoderm-lined pouches. Except for the first cleft and pouch--the persistence of which forms the external auditory canal and tubotympanum, respectively--these clefts and pouches are obliterated in the normal course of development. Persistence of the cervical sinus (of His) or an incomplete formation or rupture of the closing branchial plate between clefts and pouches results in a branchial anomaly. (10,11)

[FIGURE 4 OMITTED]

Branchial anomalies are often initially diagnosed by history and physical examination. The family history is also important in classifying associated syndromes, especially in patients with bilateral anomalies. (2,3,6) Branchial anomalies are typically located, depending on the involved branchial arch, but clinicians must be aware of these locations. While cysts may present later in life as vague swellings, sinuses and fistulas may be present at birth and drain intermittently early on. (1,5,6) This drainage may be associated with upper respiratory infections, repeated bouts of which may exacerbate symptoms, including cyst enlargement, abscess formation, and rupture. (1,12)

Plain radiographs are not helpful. Instead, sonograms or fistulograms with oily or water-soluble contrast media are needed to facilitate tract visualization. (1,5,7,8) Ultrasonography, contrast-enhanced CT, or contrast-enhanced MRI may be useful for characterizing cysts, anatomic relationships, and extensions for presurgical planning, (12) but they confer no added advantage in terms of the surgical procedure itself. (8,13)

Bilateral branchial anomalies are more often associated with branchio-oto-renal syndrome or branchio-otic syndrome, (5,13) and they necessitate further testing, including evaluation of the ears and the auditory and renal systems. (5) Basic tests include audiometry, temporal bone CT, and abdominopelvic ultrasonography. (5) Further diagnostic investigations may include chromosomal studies. (3)

The management of branchial anomalies is primarily surgical, with the goal of achieving a complete excision with preservation of vital structures. Surgery may be deferred or withheld in cases in which the anomaly is asymptomatic, as in the case of a nondraining and noninfected preauricular sinus. (1,6,12) Recurrences have been associated with incomplete excision, especially for actively draining or infected anomalies. (12,14)

[FIGURE 5 OMITTED]

Tracts may be cannulated with probes, thin catheters, (1) or sutures, (14) and they can be visualized with methylene blue (1,5) or paraffin (1) to aid dissection. The usual external approach to a second branchial anomaly involves fish-mouth external incisions around the inferiorly located puncta, with additional, wider stepladder incisions superiorly to accommodate deeper dissection through the carotid bifurcation. (1.6-8) Transoral visualization and excision of the pharyngeal origin are necessary for complete excision, (7) although transcervical dissection alone terminating superior to the hyoid bone has also been advocated. (13) The necessity of concomitant tonsillectomy (7) has not been established. (15) Long-term follow- up is needed more for ear, hearing, and renal problems than for the successfully excised branchial cleft anomalies.

References

(1.) Gold BM. Second branchial cleft cyst and fistula. AJR Am J Roentgenol 1980;134(5):1067-9.

(2.) Shvero J, Hadar T, Avidor I, et al. Heterotopic salivary tissue and branchial sinuses. J Laryngol Otol 1986;100(2):243-6.

(3.) Rana I, Dhawan R, Gudwani S, et al. Non-inherited manifestation of bilateral branchial fistulae, bilateral pre-anricular sinuses and bilateral hearing loss: A variant of branchio-oto-renal syndrome. Indian J Otolaryngol Head Neck Surg 2005;57(1):52-4.

(4.) Gupta AK, Kumar S, Jain A. Bilateral first and second branchial cleft fistulas: A case report. Ear Nose Throat J 2008;87(5):291-3.

(5.) Can IH, Dogan S, Donmez M, et al. A different type of branchial fistula as part of a branchiootorenal syndrome. J Pediatr Surg 2012;47(2):404-7.

(6.) Singh AP, Kumar V, Narula V, et al. Bilateral first and second arch anomalies: A rare presentation. Singapore Med J 2012;53(4):e74-6.

(7.) Amer I, Falzon A, Choudhury N, Ghufoor K. Branchiootic syndrome--a clinical case report and review of the literature. J Pediatr Surg 2012;47(8):1604-6.

(8.) Thakur JS, Shekar V, Saluja M, Mohindroo NK. Coexistence of bilateral first and second branchial arch anomalies. BMJ Case Rep 2013 Apr 10;2013.

(9.) Chang EH, Menezes M, Meyer NC, et al. Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 2004;23(6):582-9.

(10.) Sobol SM, Bailey SB. Evaluation and surgical management of tumors of the neck: Benign tumors. In: Thawley SE, Panje WR, Batsakis JG, Lindberg RD, eds. Comprehensive Management of Head and Neck Tumors. 2nd ed. Philadelphia: W.B. Saunders; 1999:1420-8.

(11.) Donegan JO. Congenital neck masses. In: Cummings CW, Fredrickson JM, Harker LA, et al, eds. Otolaryngology-Head and Neck Surgery. 2nd ed. St. Louis: C.V. Mosby; 1993:1554-9.

(12.) Zaifullah S, Yunus MR, See GB. Diagnosis and treatment of branchial cleft anomalies in UKMMC: A 10-year retrospective study. Eur Arch Otorhinolaryngol 2013;270(4):1501-6.

(13.) Maddalozzo J, Rastatter JC, Dreyfuss HF, et al. The second branchial deft fistula. Int J Pediatr Otorhinolaryngol 2012;76(7):1042-5.

(14.) Kesan K, Gupta RK, Kothari P, Gupta A. Bilateral pharyngeal apparatus (branchial) sinuses in a set of identical twins--a case report. J Pediatr Surg 2012;47(11):e31-2.

(15.) Cheng J, Elden L. Management of pediatric second branchial fistulae: Is tonsillectomy necessary? Int J Pediatr Otorhinolaryngol 2012;76(11):1601-3.

Jose Florencio F. Lapena Jr., MA, MD; Genilou Liv M. Jimena, MD

From the Department of Otorhinolaryngology, College of Medicine-Philippine General Hospital, University of the Philippines, Manila (Prof. Lapena); and the Section of Otorhinolaryngology-Head and Neck Surgery, Our Lady of Lourdes Hospital, Manila (Dr. Jimena). The case described in this article occurred at the Philippine General Hospital.

Corresponding author: Prof. Jose Florencio F. Lapena Jr., Ward 10, Philippine General Hospital, Taft Ave., Ermita, Manila 1000, Philippines. Phone: 63-2-554-8467; fax: 63-2-524-4455. Email: lapenajf@upm.edu.ph
Table. Summary of reported cases of bilateral second branchial
cleft anomalies coexisting with first branchial cleft anomalies

                         Age/
Author                   sex    Second branchial arch

Gold, (1) 1980           19/F   Right SCM, branchial cleft fistula
                                Left SCM, branchial cleft cyst

Shvero et al, (2) 1986   2/M    Bilateral SCM, branchial cleft fistula
                         6/F    Bilateral SCM, branchial cleft fistula

Rana et al, (3) 2005     6/M    Bilateral SCM, branchial cleft fistula

Gupta et al, (4) 2008    11/M   Bilateral SCM, branchial cleft fistula

Can et al, (5) 2012      13/F   Right SCM, branchial cleft fistula

Singh et al, (6) 2012    15/M   Bilateral SCM, branchial cleft fistula

Amer et al, (7) 2012     6/F    Bilateral, branchial cleft fistula

Thakur et al, (8) 2013   17/M   Bilateral SCM, branchial cleft fistula
                         8/F    Bilateral SCM, branchial cleft fistula

Lapeha and Jimena, *     6/F    Bilateral SCM, branchial cleft fistula
2013

Author                   First branchial arch

Gold, (1) 1980           Bilateral PA sinus

Shvero et al, (2) 1986   Bilateral PA sinus
                         Bilateral PA sinus

Rana et al, (3) 2005     Bilateral PA sinus

Gupta et al, (4) 2008    Bilateral PA sinus

Can et al, (5) 2012      Bilateral PA sinus

Singh et al, (6) 2012    Bilateral PA sinus

Amer et al, (7) 2012     Bilateral PA sinus

Thakur et al, (8) 2013   Bilateral PA sinus
                         Bilateral PA sinus

Lapeha and Jimena, *     Right PA sinus
2013

Author                   Type of syndrome and features

Gold, (1) 1980           Nontamilial branchio-otic syndrome;
                         bilateral sensorineural hearing loss;
                         abnormal ossicles; high-arched palate

Shvero et al, (2) 1986   Both cases familial, nonsyndromic

Rana et al, (3) 2005     Nonfamilial branchio-oto-renal
                         syndrome; bilateral sensorineural
                         hearing loss; abnormal external
                         auditory canal and cochlea;
                         hydronephrosis

Gupta et al, (4) 2008    Nontamilial branchic-otic-syndrome;
                         bilateral moderate mixed hearing loss;
                         bilateral microtia; bilateral abnormal
                         ossicles and cochlea

Can et al, (5) 2012      Reported as rami ial braichio-oto-
                         renal syndrome, but there was no
                         renal involvement

Singh et al, (6) 2012    Nontamilial, nonsyndromic

Amer et al, (7) 2012     Familial branchio-otic syndrome

Thakur et al, (8) 2013   Both casos nonfamilial, nonsyndromic

Lapeha and Jimena, *     Nonfamilial b-anchio-otic syndrome;
2013                     bilateral moderately severe hearing
                         loss

* Present case.

Key: SCM = sternocleidomastoid muscle; PA = preauricular.
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Title Annotation:ORIGINAL ARTICLE
Author:Lapena, Jose Florencio F., Jr.; Jimena, Genilou Liv M.
Publication:Ear, Nose and Throat Journal
Article Type:Case study
Geographic Code:1USA
Date:Jul 1, 2013
Words:2190
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