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 Table of Contents  
Year : 2021  |  Volume : 26  |  Issue : 1  |  Page : 56-58

Simultaneous bilateral cochlear implantation in a case of Waardenburg syndrome – A case report and review of literature

Department of Otorhinolaryngology, Maulana Azad Medical College and Associated Lok Nayak, Govind Ballabh Pant (GIPMER) Hospitals and Guru Nanak Eye Centre, New Delhi, India

Date of Submission06-Mar-2020
Date of Acceptance13-Jan-2021
Date of Web Publication29-Jun-2021

Correspondence Address:
Dr. K N Arif
Kavungal Nambillath House, Kondotty P.O, Colony Road, Malappuram - 673 638, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jmgims.jmgims_26_20

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We report a case of Waardenburg Syndrome (WS) who underwent simultaneous bilateral cochlear implantation and the evolution of auditory performance over a 5 year follow-up. Examination revealed a white forelock with iris heterochromia and confluent eyebrows (synophoris). Audiometric evaluation revealed bilateral profound sensorineural hearing loss. High resolution tomography of temporal bone showed normal inner ear anatomy and subsequently child underwent bilateral cochlear implantation which was followed by regular postoperative rehabilitation and speech therapy.

Keywords: Cochlear implant, neurotology, Waardenburg syndrome

How to cite this article:
Arif K N, Passey J C, Ali MR, Devi TM. Simultaneous bilateral cochlear implantation in a case of Waardenburg syndrome – A case report and review of literature. J Mahatma Gandhi Inst Med Sci 2021;26:56-8

How to cite this URL:
Arif K N, Passey J C, Ali MR, Devi TM. Simultaneous bilateral cochlear implantation in a case of Waardenburg syndrome – A case report and review of literature. J Mahatma Gandhi Inst Med Sci [serial online] 2021 [cited 2022 May 24];26:56-8. Available from: https://www.jmgims.co.in/text.asp?2021/26/1/56/319841

  Introduction Top

Waardenburg syndrome (WS) is an inherited disorder defined by the involvement of skin, iris and hair pigmentation abnormalities, and varying degrees of sensorineural hearing loss. The estimated prevalence of WS is approximately 1 case/42,000 individuals. Sensorineural hearing loss is quite a frequently associated feature in WS. Bilateral hearing loss is more frequent than unilateral, but not necessarily symmetrical. WS is responsible for about 2-5% of profound congenital hearing loss. Congenitally deaf children with WS, severely or profoundly impaired with limited hearing aid benefit, should be considered for cochlear implantation as they have shown encouraging results comparable to those reported for the general population of implanted children.

Bilateral cochlear implantation is now universally accepted for rehabilitating hearing in severe to profound bilateral deaf when possible. There are two substantial benefits of binaural hearing: better discrimination in noisy surroundings and better spatial sound localization. The ability to localize the sound source derives primarily from acoustic information arising from differences in arrival time and in level of stimuli at the two ears.

In this case report, we report a case of WS who underwent simultaneous bilateral cochlear implantation and the evolution of auditory performance over a 5-year follow-up period.

  Case Report Top

A 13-year-old healthy male presented to our office for a second opinion because of poor speech development and poor hearing despite using bilateral hearing aids since the age of 9 months. Antenatal period was uneventful. Perinatal period was uneventful except for neonatal jaundice which was treated conservatively. Newborn hearing evaluation was not done. At the age of 6 months, the parents noticed that the child was not responding to sound. Auditory evaluation revealed bilateral profound hearing loss. The child was advised bilateral hearing aids at the age of 9 months and speech therapy was started at 18 months. At the age of 2 years, parents noticed white hair over the forehead for which medical opinion was sought again, and the child was diagnosed to be a case of WS.

The examination was notable for a white forelock with iris heterochromia and confluent eyebrows (synophorys) [Figure 1]. The child was healthy, with no gastrointestinal symptoms, and no other pigmentary abnormalities. The parents refused genetic testing. There was no family history of hearing loss. The patient was worked up for bilateral cochlear implantation under general anesthesia. Distortion product otoacoustic emissions showed bilateral refer. Impedance audiometry showed bilateral A type audiogram with absent reflexes. On brainstem evoked response audiometry analysis wave V peaks could not be identified at the higher intensity level, i.e., 95 dBnHL suggesting profound hearing loss [Figure 2]. On analysis, auditory steady state responses phase locked thresholds obtained for both ears at 500 Hz, 1 KHz, 2 KHz, and 4 KHz at various intensities were suggestive of bilateral profound hearing loss. High-resolution computerized tomography of temporal bone revealed no significant abnormality. Magnetic resonance imaging of brain and inner ear showed bilateral normal brain parenchyma, inner ear structures, and normal seventh and eighth nerve complexes.
Figure 1: White forelock and confluent eyebrows

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Figure 2: Bera showing bilateral profound hearing loss

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Following preanesthetic checkup, the patient underwent bilateral cochlear implantation through cochleostomy anteroinferior to round window approach using Nurotron implant. A full insertion was achieved as temporal bone anatomy was normal. Intraoperative neural response telemetry (NRT) revealed all 24 electrodes functioning on both sides. During the post-operative period, the patient was kept on intravenous antibiotics for 2 weeks. At the end of 2 weeks, NRT was repeated and switch on and matching was done on the 21st postoperative day. The patient was given regular post-operative rehabilitation and speech therapy. Auditory perception of the implantee was evaluated using the categories of auditory performance and meaningful auditory integration scales. Speech intelligibility rating was used for the evaluation of speech production ability during the follow-up period [Table 1]. Now, it has been 5 years' post implantation. The implantee is currently studying in the eleventh standard and shows good academic performance.
Table 1: Performance outcomes of our patient on follow-up

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  Discussion Top

WS is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation. This disorder was named after a Dutch ophthalmologist, Petrus Waardenburg, who first described it in 1947.[1] WS accounts for between 2-5% of all cases of congenital deafness. There are four clinical subtypes: Type I, characterized by the presence of dystopia canthorum, sensorineural hearing loss, heterochromic irides, white forelock, hypopigmentation, and synophrys; Type II, being the features of Type I without dystopia canthorum; Type III, or Klein–WS, which has type I features plus musculoskeletal abnormalities of the upper limbs; and Type IV, or Shah– WS, characterized by Type II features and Hirschsprung's disease.[2],[3],[4] The estimated prevalence of WS is approximately 1 case/42,000 individuals.[5] WSI is 1.5–2 times more common than WSII; Type III and IV are far rarer forms of WS.[6] Sensorineural hearing loss is quite a frequent feature in WS, reported in 60% and 90% of patients with Type I and Type II, respectively. Bilateral forms of hearing loss are more frequent than unilateral, but not necessarily symmetrical.

Although in some studies enlargement of the vestibular aqueduct and the vestibule, narrowing of the internal auditory canal porus and hypoplasia of the modiolus are reported as features of WS, abnormality of the bony labyrinth is not a frequent finding in WS with congenital deafness, particularly in WS type I. Therefore, both the otologist and the audiologist must bear in mind that the inner-ear anatomy of most of these cases is suitable for cochlear implantation.[7],[5] Kontorinis et al. reported an isolated case of large vestibule among a total of 50 temporal bones radiologically assessed, in a larger subset of 25 WS implanted children; it was stated that temporal bone malformations that could pose serious obstacles in cochlear implantation are not characteristic of WS.[8] In our case also, both the inner ears were normal.

A study was done by de Sousa Andrade et al.[9] to review the outcomes of children with documented WS with cochlear implant (CI), concerning post-operative speech perception and production, in comparison to the rest of non-syndromic implanted children. Six implanted children were clinically identified as having WS type I, and one met the diagnosis of Type II. All WS children received multichannel CIs. Post-operative performance outcomes were assessed and compared with results obtained by children with non-syndromic congenital deafness with CI. Post-operative outcomes in WS children were similar to other non-syndromic children. This study showed that cochlear implantation should be considered a rehabilitative option for WS children with profound deafness, enabling the development and improvement of speech perception and production abilities in this group of patients, reinforcing their candidacy for this audio-oral rehabilitation method.

In a retrospective study by Josephine et al.[10] involving 14 children with WS, children with WS performed similarly to the reference group of 48 implantees with respect to speech perception and language comprehension.

A study done by Cullen et al.[11] described the outcomes for children with WS who had undergone cochlear implantation. Seven patients with WS and CIs were identified. Results of standard tests batteries for speech perception and production administered as a part of the patients' auditory habilitation were reviewed. All of these patients were active users of their devices and performed very well after implantation.

The major advantages of bilateral hearing are better comprehension in noise with the ability to locate the source of sounds and detecting differences in timing and loudness levels between the two ears. Hearing in both ears can improve the ability to localize sounds, especially helping the patients to know how far away the sound is and its movement. This helps patients in demanding conversation settings, such as when two speakers are talking. It helps patients ignore one speaker while listening to another, and to switch from the conversation of one to the conversation of another. Binaural hearing can make it easier to hear speech and other sounds. When the same sound is heard from both sides of the head, listeners become aware of the sound at softer levels and may communicate with less effort in stressful listening situations, such as noisy environments. Binaural hearing provides the remarkable ability to tune in or to focus on a single speaker when surrounded by background noise. With binaural hearing, the auditory system combines and compares the two signals and the brain filters out much of the unwanted noise. Our patient has shown comparable results with the general population of implanted patients. Bilateral implantation will help better hearing in noise and better localization of sound.

Declaration of patient consent

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

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Waardenburg PJ. A new syndrome combining development anomalies of eyelids, eyebrows and nose root with pigmentary defects of iris and head hair and with congenital deafness. Am J Hum Genet 1951;3:195.  Back to cited text no. 1
Arias S. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Orig Artic Ser 1971;07:87-101.  Back to cited text no. 2
Klein D. Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III). Am J Med Genet 1983;14:231-9.  Back to cited text no. 3
Shah KN, Dalal SJ, Desai MP, Sheth PN, Joshi NC, Ambani LM. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome. J Pediatr 1981;99:432-5.  Back to cited text no. 4
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat 2010;31:391-406.  Back to cited text no. 5
Madden C, Halsted MJ, Hopkin RJ, Choo DI, Benton C, Greinwald JH Jr. Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope 2003;113:2035-41.  Back to cited text no. 6
Oysu C, Oysu A, Aslan I, Tinaz M. Temporal bone imaging findings in Waardenburg's syndrome. Int J Pediatr Otorhinolaryngol 2001;58:215-21.  Back to cited text no. 7
Kontorinis G, Lenarz T, Giourgas A, Durisin M, Lesinski-Schiedat A. Outcomes and special considerations of cochlear implantation in waardenburg syndrome. Otol Neurotol 2011;32:951-5.  Back to cited text no. 8
De Sousa Andrade SM, Monteiro AR, Martins JH, Alves MC, Santos Silva LF, Quadros JM, et al. Cochlear implant rehabilitation outcomes in Waardenburg syndrome children. Int J Pediatr Otorhinolaryngol 2012;76:1375-8.  Back to cited text no. 9
van Nierop JW, Snabel RR, Langereis M, Pennings RJ, Admiraal RJ, Mylanus EA, et al. Paediatric cochlear implantation in patients with Waardenburg syndrome. Audiol Neurootol 2016;21:187-94.  Back to cited text no. 10
Cullen RD, Zdanski C, Roush P, Brown C, Teagle H, Pillsbury HC 3rd, et al. Cochlear implants in Waardenburg syndrome. Laryngoscope 2006;116:1273-5.  Back to cited text no. 11


  [Figure 1], [Figure 2]

  [Table 1]


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