Congenital sensorineural hearing loss in a 1-year-old twin with Zellweger syndrome: a case report

The Zellweger syndrome is a very rare autosomal recessive inherited disorder. It is characterized by the absence of peroxisomes and can lead to congenital sensorineural hearing loss and even deafness due to the impairment of metabolic pathways.

We report on a one-year-old twin girl with an intermediate phenotype of Zellweger syndrome, who came to our clinic for a cochlear implantation.

Human genetic data showed a mutation of the PEX-1 gene. The child had profound hearing loss on both sides with almost deafness on the right ear and a developmental delay. The dizygotic twin sister was healthy. Hearing aid supplies on both sides had been in place since August 2020. The hearing aid setting was optimized but did not result in hearing gain on the right side. CT-scan of the temporal bones and MR-imaging of the skull showed a normal development of the cochlea, the labyrinth and the brain stem. In the BERA no wave complexes could be reproduced on either side. The ASSR also showed a severe hearing loss on the right more than on the left. Due to all the findings and with the consent of the parents, the indication for cochlear implantation was made on the right after social pediatrics and phoniatrics also confirmed a favorable prognosis with regard to rehabilitation ability.

The surgery was performed without complications in October 2021. The intraoperative recordings of the NRTs were in the normal range, the CI adjustment was started.

Zellweger Syndrome is a very rare disease. Currently, only a few hundred cases are described in literature. In the case of severe hearing loss, after ruling out an aplasia of the auditory nerve, early cochlear implantation is indicated to facilitate hearing.

Publication History

Article published online:
24 May 2022