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Observational Study
. 2025 Jan;282(1):113-118.
doi: 10.1007/s00405-024-08897-2. Epub 2024 Aug 29.

Cochlear implantation in syndromic patients: difficulties and lessons learnt

Mina Fayez Saleeb  1 , Lobna El Fiky  1 , Badr Eldin Mostafa  1 , Ossama Mustafa Mady  1 , Ahmed Abdelmoneim Teaima  2
Affiliations
Observational Study

Cochlear implantation in syndromic patients: difficulties and lessons learnt

Mina Fayez Saleeb et al. Eur Arch Otorhinolaryngol. 2025 Jan.

Abstract

Objective: Identify the prevalence of syndromes in a cohort of patients who underwent cochlear implantation, to report on the presence of inner and middle ear malformations and highlight the surgical difficulties encountered.

Study design: Observational, retrospective study.

Setting: Tertiary referral children's hospital pediatric cochlear implant program.

Material & methods: An IRB-approved retrospective chart review of children undergoing cochlear implantation at a tertiary academic medical center, from 2018 to 2023. Preoperative imaging data of syndromic patients in that cohort with special attention to the presence of inner ear or middle ear malformations were collected. Abnormal intraoperative findings and difficulties reported by the surgeons were also noted.

Results: 1024 children were unilaterally implanted for bilateral profound hearing loss. There were 45 cases diagnosed with associated syndromes (4.3%). The commonest syndromes were Jervell and Lange Nielsen (JLN) syndrome followed by Waardenberg syndrome (WS), in a prevalence of 34% and 32% respectively. These syndromes had no associated inner ear malformations (IEM). Less common syndromes included Branchio-oto-renal (BOR) syndrome, CHARGE association and Treacher Collins syndrome, 3 cases each, and keratosis icthyosis deafness syndrome (KID), Usher syndrome and Albino, 2 cases each and an H syndrome case. There were 9 cases (20%) with IEM, with 6 cases of perilymph gusher. Two cases had middle ear anomalies and one case had a facial nerve course abnormality. The outcome of these cases was similar to non-syndromic cases.

Conclusion: Children with syndromic HL should be dealt with on a case by case scenario to diagnose inner and middle ear malformations. Additional disabilities can affect the rehabilitation procedures. All children with congenital hearing loss should undergo pediatric, cardiologic, ophthalmologic and nephrologic examination in order to exclude the syndromic etiology of hearing loss.

Keywords: Cochlear implantation; Congenital hearing loss; Inner ear anomalies; Syndromic hearing loss.

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Figures

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Fig. 1
Syndromes in our study
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KID syndrome features
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Isolated WVA & Ossicular anomalies in Treacher-Collins case
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Fig. 4
Used electrodes
See this image and copyright information in PMC

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