Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome

I. Todt, H. C. Hennies, W. Küster, J. Smolle, G. Rademacher, S. Mutze, D. Basta, A. Eisenschenk, A. Ernst

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

The phenotype of the HID (hystrix-like ichthyosis, deafness)/KID (keratitis, ichthyosis, deafness) syndrome is primarily characterized by skin changes. However, the connexin 26 (Cx 26) autosomal dominant mutation underlying this syndrome is of special neurotological interest. In the present paper, the clinical pattern, audiovestibular and neuroimaging findings and the detailed genetic analysis of 4 patients with identical HID/KID-associated mutation D50N of Cx 26 are reported. The audiological test results demonstrated profound sensorineural hearing loss in all of the patients. Neurotological testing revealed inconsistent abnormalities in dynamic posturography (sensory organization test), but the vestibular ocular reflex upon caloric irrigation was normal in all patients. Vestibular-evoked myogenic potential testing for otolith function (saccule) showed a regular response in 1 patient and pathologic responses in 3 patients, while subjective haptic vertical (utricular function) testing was normal in all of the patients. CCT showed an extended (in length), but very thin (in diameter) bony lining between the basal portion of the internal auditory canal and the vestibule in the 3 scanned patients. Our study provides evidence for functionally intact semicircular canals and normal utricular function in subjects with the autosomal dominant D50N mutation of Cx 26, in contrast to saccular function which was generally compromised and hearing loss which was profound.

LanguageEnglish
Pages242-248
Number of pages7
JournalAudiology and Neurotology
Volume11
Issue number4
DOIs
Publication statusPublished - 1 Jun 2006
Externally publishedYes

Fingerprint

Porcupines
Ichthyosis
Deafness
Mutation
Vestibular Evoked Myogenic Potentials
Saccule and Utricle
Otolithic Membrane
Semicircular Canals
Sensorineural Hearing Loss
Connexin 26
Keratitis, Ichthyosis, and Deafness (KID) Syndrome
Hearing Loss
Neuroimaging
Reflex
Phenotype
Skin

Cite this

Todt, I. ; Hennies, H. C. ; Küster, W. ; Smolle, J. ; Rademacher, G. ; Mutze, S. ; Basta, D. ; Eisenschenk, A. ; Ernst, A. / Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. In: Audiology and Neurotology. 2006 ; Vol. 11, No. 4. pp. 242-248.
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Todt, I, Hennies, HC, Küster, W, Smolle, J, Rademacher, G, Mutze, S, Basta, D, Eisenschenk, A & Ernst, A 2006, 'Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome', Audiology and Neurotology, vol. 11, no. 4, pp. 242-248. https://doi.org/10.1159/000093110

Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. / Todt, I.; Hennies, H. C.; Küster, W.; Smolle, J.; Rademacher, G.; Mutze, S.; Basta, D.; Eisenschenk, A.; Ernst, A.

In: Audiology and Neurotology, Vol. 11, No. 4, 01.06.2006, p. 242-248.

Research output: Contribution to journalArticle

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T1 - Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome

AU - Todt, I.

AU - Hennies, H. C.

AU - Küster, W.

AU - Smolle, J.

AU - Rademacher, G.

AU - Mutze, S.

AU - Basta, D.

AU - Eisenschenk, A.

AU - Ernst, A.

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N2 - The phenotype of the HID (hystrix-like ichthyosis, deafness)/KID (keratitis, ichthyosis, deafness) syndrome is primarily characterized by skin changes. However, the connexin 26 (Cx 26) autosomal dominant mutation underlying this syndrome is of special neurotological interest. In the present paper, the clinical pattern, audiovestibular and neuroimaging findings and the detailed genetic analysis of 4 patients with identical HID/KID-associated mutation D50N of Cx 26 are reported. The audiological test results demonstrated profound sensorineural hearing loss in all of the patients. Neurotological testing revealed inconsistent abnormalities in dynamic posturography (sensory organization test), but the vestibular ocular reflex upon caloric irrigation was normal in all patients. Vestibular-evoked myogenic potential testing for otolith function (saccule) showed a regular response in 1 patient and pathologic responses in 3 patients, while subjective haptic vertical (utricular function) testing was normal in all of the patients. CCT showed an extended (in length), but very thin (in diameter) bony lining between the basal portion of the internal auditory canal and the vestibule in the 3 scanned patients. Our study provides evidence for functionally intact semicircular canals and normal utricular function in subjects with the autosomal dominant D50N mutation of Cx 26, in contrast to saccular function which was generally compromised and hearing loss which was profound.

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