Author(s)
Ashley Heilingoetter, MD, MPH
Abdulrahman Althubaiti, MBBS, FRCSC
Daniel Nolan, MD, PhD
Prashant Malhotra, MD
Affiliation(s)
Otolaryngology, Ohio State Univ. Wexner Med. Ctr., Columbus, OH, Otolaryngology, Nationwide Children's Hosp., Columbus, OH, Genetic and Genome Medicine, Nationwide Children's Hosp., Columbus, OH.;
Abstract:
Introduction: Zellweger Spectrum Disorder (ZSD) is characterized by disordered peroxisome biogenesis and elevated very long chain fatty acids. Presentation of ZSD can range from mild to severe, and hearing loss (HL) is a frequent otolaryngologic manifestation. The proposed mechanism is the incorporation of abnormal fatty acids into neuronal membranes with atrophy of the tectorial membrane and stria vascularis. Little data characterizing HL and its management in ZSD patients exist within the literature. Here we present a case of bilateral cochlear implantation (CI) in a ZSD patient with delayed onset of sensorineural HL.
Methods: Retrospective review of electronic medical record was performed. In addition, a PubMed Database search was performed. One recently published retrospective study was identified describing HL and CI in patients with ZSD.
Results: Case Report: A 12-month-old female diagnosed with ZSD was seen in the hearing clinic for an abnormal hearing test. She failed her newborn hearing screen (NBHS) and underwent 2 subsequent auditory brainstem response (ABR) tests, the second of which was normal around 2 months of age. After ZSD diagnosis at 1 year of age, her family suspected hearing loss, and this was ultimately confirmed on sedated ABR. At 19 months, she underwent bilateral CI. She has 2 mutations in the PEX1 gene, one of which is associated with a milder form and one with a more severe form of ZSD.
Conclusion: HL is an important complication of ZSD, though it has yet to be entirely understood. Patients may have sensorineural or mixed HL. Little longitudinal audiometric outcome data are available. The delayed onset of HL seen in our patient highlights the importance of close audiologic follow up in patients with ZSD. This is one of only a few reported cases of CI in ZSD patients and may help guide management for similar patients in the future.