Congenital sensorineural deafness X-linked, with inner ear malformation in a Mexican family Sordera neurosensorial congénita con malformación de oído interno ligada al X en una familia mexicana

Abstract

Introduction. The pre-lingual deafness or hearing loss are of genetic cause in between 60% and 68% of cases, among these, between 20% and 40% are malformation of the inner ear. From the non-syndromic hearing loss cases that are linked to the X chromosome, seven types have been described. Among these inner ear malformations, incomplete cochlear partition type III is the less frequent.

Objective. Present the clinical genetical report of a Mexican family, with male individuals affected by congenital neurosensory deafness with inner ear malformation.

Materials and methodology. A study on a family in which nine members were affected by deafness was done. Four of them, plus a mother without manifestation, were studied through a general clinical study by a geneticist, an audiological study (otoscopy and audiometry) by an audiologist, and a computed tomography (CT) scan by a radiologist.

Results. The studied patients presented congenital neurosensory deafness, from severe to deep bilateral. Via the CT, the inner ear malformation was made clear. Three of the patients presented incomplete cochlear partition type III and one patient incomplete cochlear partition type I. Due to the clinical study and the family tree, it was diagnosed non-syndromic neurosensory deafness linked to X. The CT of the mother without manifestation did not show evidence of inner ear malformations.

Conclusion. The study by image is fundamental to define whether there is or not a presence of inner ear malformations in any patient with heading loss to be able to guide the therapeutics and the genetic counseling, as well as to make more accurate molecular studies.