Next Article in Journal
Skull Vibration Induced Nystagmus Test: Correlations with Semicircular Canal and Otolith Asymmetries
Next Article in Special Issue
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview
Previous Article in Journal
Skull Vibration-Induced Nystagmus Test (SVINT) in Vestibular Migraine and Menière’s Disease
Previous Article in Special Issue
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Audiology Research
Volume 11
Issue 4
10.3390/audiolres11040055
audiolres-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Case Report

A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review

by
Francesca Forli
1,2,*,
Luca Bruschini
1,2,
Beatrice Franciosi
1,2,
Roberta Battini
3,4,
Gemma Marinella
3,4,
Stefano Berrettini
1,2,5 and
Francesco Lazzerini
1,2
1
Otolaryngology, Audiology and Phoniatrics Unit, University of Pisa, 56100 Pisa, Italy
2
Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, 56100 Pisa, Italy
3
Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, 56100 Pisa, Italy
4
Department of Clinical and Experimental Medicine, University of Pisa, 56100 Pisa, Italy
5
Department of Clinical Science, Intervention and Technology, Karolinska Institutet, 17177 Stockholm, Sweden
*
Author to whom correspondence should be addressed.
Audiol. Res. 2021, 11(4), 609-617; https://doi.org/10.3390/audiolres11040055
Submission received: 15 September 2021 / Revised: 12 October 2021 / Accepted: 9 November 2021 / Published: 13 November 2021
(This article belongs to the Special Issue Genetics of Hearing Loss)
Browse Figures
Versions Notes

Abstract

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterised by ovarian failure in females and sensorineural hearing loss (SNHL) in both genders. In the present paper we describe a child affected by PRLTS3, due to CLPP homozygous mutations, presenting auditory neuropathy spectrum disorder (ANSD) with bilateral progressive SNHL. This is the first case reported in the literature of an ANSD in PRLTS3. CLPP is a nuclear encoded mitochondrial protease directed at the mitochondrial matrix. It is encoded on chromosome 19. This protease participates in mitochondrial protein quality control by degrading misfolded or damaged proteins, thus maintaining the normal metabolic function of the cell. In PRLTS3, the peptidase activity of CLPP is suppressed. Neurological impairments involved in PRLTS3 suggest that the pathogenic mutations in CLPP might trigger a mitochondrial dysfunction. A comprehensive description of the clinical and audiological presentation, as well as the issues related to cochlear implant (CI) procedure and the results, are addressed and discussed. A brief review of the literature on this topic is also provided.
Keywords: auditory neuropathy spectrum disorder; Perrault syndrome; cochlear implant auditory neuropathy spectrum disorder; Perrault syndrome; cochlear implant

Share and Cite

MDPI and ACS Style

Forli, F.; Bruschini, L.; Franciosi, B.; Battini, R.; Marinella, G.; Berrettini, S.; Lazzerini, F. A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review. Audiol. Res. 2021, 11, 609-617. https://doi.org/10.3390/audiolres11040055

AMA Style

Forli F, Bruschini L, Franciosi B, Battini R, Marinella G, Berrettini S, Lazzerini F. A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review. Audiology Research. 2021; 11(4):609-617. https://doi.org/10.3390/audiolres11040055

Chicago/Turabian Style

Forli, Francesca, Luca Bruschini, Beatrice Franciosi, Roberta Battini, Gemma Marinella, Stefano Berrettini, and Francesco Lazzerini. 2021. "A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review" Audiology Research 11, no. 4: 609-617. https://doi.org/10.3390/audiolres11040055

APA Style

Forli, F., Bruschini, L., Franciosi, B., Battini, R., Marinella, G., Berrettini, S., & Lazzerini, F. (2021). A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review. Audiology Research, 11(4), 609-617. https://doi.org/10.3390/audiolres11040055

Article Metrics

Back to TopTop