Case report: Congenital profound deafness and Cochlea Implantation in Tietz syndrome (hypopigmentation/deafness)

Introduction:

The Tietz syndrome is a rare, autosomal dominant disease. Its exact prevalence is unknown. So far, only a few affected families have been identified. It is manifested by congenital high-grade inner ear hearing loss, fair skin and light colored hair. It is caused by mutations in the MITF gene, which either leads to the deletion or to the modification of a protein-forming block. It is believed that the Tietz syndrome is a severe form of the Waardenburg syndrome, which is also caused by MITF gene mutations.

Method:

We present the case of a 1-year-old female patient, who, as part of a newborn hearing screening, was suspected of having a bilateral hearing disorder. Both the TEOAE and the AABR showed conspicuous results. The BERA showed uncertainty on the right and no reliable proof of potential at 80 dB on the left side. In the father of the patient the Kallmann syndrome was suspected. A genetic study revealed a heterozygous alteration in the MITF gene, which genetically ensured a Tietz syndrome (hypopigmentation/deafness). A bilateral cochlear implantation was performed in April 2017, after verification of a bilateral profound deafness. The third audioverbal therapy in September 2017 showed clearly improved hearing reactions. The patient is now able to form double-syllabled words.

Conclusion:

Tietz syndrome is an extremely rare entity. Still, especially in patients with a conspicuous phenotype, genetic diagnostics should be considered. An early cochlea implantation is promising and should be pursued.

Publication History

Publication Date:
18 April 2018 (online)