Cochlear implantation in keratitis-ichthyosis-deafness syndrome: 10-year follow-up of two patients.

Abstract

OBJECTIVE AND IMPORTANCE:

The objective of this study was to describe long-term outcomes after cochlear implantation in keratitis-ichthyosis-deafness (KID) syndrome, often caused by GJB2 mutations, in the context of other reported cases. Clinical presentation and intervention: The authors conducted correlative clinical and molecular genetic analysis on two implanted patients with KID syndrome, and tabulated their clinical outcomes. Both children had initially successful surgery. In one case, due to skin-related problems, despite extensive salvage surgery cochlear explantation was required. This patient now communicates with sign language and lip-reading. This contrasts with the outcome for the other patient whereby at post-operative year 10 he is able to easily converse by telephone. Both patients each carry a de novo 148G > A GJB2 mutation.

CONCLUSION:

Patients with KID syndrome appear to be good candidates for cochlear implantation but may face significant skin-related problems which could disrupt successful post-operative habilitation. Consultation with dermatological colleagues regarding any new therapies may be warranted.

• Authors: C M Smyth, A R Sinnathuray, A E Hughes, J G Toner
• Journal: Cochlear implants international (Cochlear Implants Int) Vol. 13 Issue 1 Pg. 54-9 (Feb 2012) ISSN: 1754-7628 [Electronic] England
• PMID: 22340753 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Connexins
• GJB2 protein, human
• Connexin 26

Topics

• Child
• Child, Preschool
• Cochlear Implantation (methods)
• Cochlear Implants
• Connexin 26
• Connexins (genetics)
• Deafness (diagnosis, genetics, surgery)
• Female
• Follow-Up Studies
• Hearing Loss, Sensorineural (congenital, surgery)
• Humans
• Ichthyosis (diagnosis, genetics, surgery)
• Keratitis (diagnosis, genetics, surgery)
• Male
• Mutation
• Risk Assessment
• Time Factors
• Treatment Outcome