Perrault Syndrome – A Rare Genetic Disorder with Audiological and Neurological Implications

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Hoşgör B., Ödemişlioğlı Aydın A., Evin Eskicioğlu H., Mungan Durankaya S., Olgun Y., Kırkım G.

I. BIRUNI INTERNATIONAL HEALTH SCIENCES CONGRESS, İstanbul, Türkiye, 23 - 24 Mayıs 2025, cilt.36, sa.12, ss.1-66, (Özet Bildiri)

  • Yayın Türü: Bildiri / Özet Bildiri
  • Cilt numarası: 36
  • Basıldığı Şehir: İstanbul
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.1-66
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

OP12

Perrault Syndrome – A Rare Genetic Disorder with

Audiological and Neurological Implications

Berna Hoşgör¹, Ayça Ödemişlioğlu Aydın¹, Hande Evin

Eskicioğlu1,2, Serpil Mungan Durankaya2,3, Yüksel Olgun4,

Günay Kırkım2,3

¹Dokuz Eylül University, Institute of Health Sciences, Department of

Audiology, İzmir, Türkiye

²Dokuz Eylül University, Vocational School of Health Services,

Department of Medical Services and Techniques, Audiometry Program,

İzmir, Türkiye

³Dokuz Eylül University, Hearing, Speech and Balance Unit, İzmir,

Türkiye

4Dokuz Eylül University, Faculty of Medicine, Department of

Otorhinolaryngology, İzmir, Türkiye

Purpose: Perrault syndrome is a rare autosomal recessive

disorder that can present with ovarian dysgenesis, sensorineural

hearing loss and neurological symptoms. This case presents the

diagnosis and treatment management of a 5-year-old girl with a

rare syndrome. It emphasizes the importance of an appropriate

clinical approach and interdisciplinary collaboration between

different specialties for rare conditions such as Perrault

syndrome, in which hearing loss is also observed.

Case: At the age of 3, the patient was diagnosed at an external

center with bilateral sensorineural hearing loss and was

recommended hearing aids. However, due to inconsistent use

of the hearing aids, she presented to our clinic. An audiological

evaluation was performed using both objective and subjective

tests. In the Auditory Brainstem Response (ABR) test, no

response was obtained to click stimuli with alternating polarity

at maximum intensity. Prolonged cochlear microphonics

reversing in rarefaction and condensation polarities were

observed. Pure-tone audiometry revealed bilateral severe

sensorineural hearing loss. Cortical responses were recorded at

65 dB SPL and 75 dB SPL with hearing aids, while no responses

were observed without hearing aids. The patient’s hearing aids

were adjusted, and aided rehabilitation was continued. Since

sufficient amplification could not be achieved with the hearing

aids, the patient was included in the cochlear implantation

program. However, the family declined the implantation.

Conclusion: In syndromes where hearing loss develops over

time, collaboration between the disciplines of neurology,

genetics, and audiology is critically important for the diagnosis

and rehabilitation of hearing loss.

Keywords: Audiology, Genetic Disorder, Hearing Loss, Perrault

Syndrome