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J Am Acad Audiol 2017; 28(01): 080-090
DOI: 10.3766/jaaa.15112
Case Reports
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Detailed Audiological Evaluation of a Patient with Xeroderma Pigmentosum with Neural Degeneration

Danielle Mercer
*   Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA
,
Annette Hurley
†   Department of Communication Disorders, Louisiana State University Health Sciences Center, New Orleans, LA
,
Fern Tsien
*   Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA
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Publikationsdatum:
26. Juni 2020 (online)

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Abstract

Background:

Xeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss.

Purpose:

Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and hearing loss.

Research Design:

This is a case report of a patient with XP subtype D, type 1 diabetes, and some clinical features typical of Charcot-Marie-Tooth disease.

Data Collection and Analysis:

We obtained audiological evaluations over a course of 11 yr, including serial audiograms, auditory processing disorders evaluations, and electrophysiological testing.

Results:

Hearing sensitivity has progressed from a unilateral mild high-frequency sensorineural hearing loss to a bilateral sloping moderate to severe/profound sensorineural hearing loss. In addition to the dramatic decline in hearing sensitivity, the patient demonstrates global auditory processing deficits, indicating a central component to his hearing loss.

Conclusion:

These findings emphasize the importance of the contribution of audiological evaluations to the diagnosis of a genetic disorder. Periodic evaluations of hearing sensitivity and auditory processing can provide information on disease progression in patients with XP with neural degeneration.

Key Words

auditory brainstem response - central auditory processing disorder - Charcot-Marie-Tooth disease - genetic hearing loss - type 1 diabetes - xeroderma pigmentosum

This study was presented as a poster at the American Society of Human Genetics conference in Boston, MA, October 24, 2013; and the American Academy of Audiology conference in Orlando, FL, March 28, 2014.