title: Detailed Audiological Evaluation of a Patient with Xeroderma Pigmentosum with Neural Degeneration.
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.
  
  
  OBJECTIVE
  Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and hearing loss.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA.
authors.forename: Danielle
authors.initials: D
authors.lastname: Mercer
authors.affiliation: Department of Communication Disorders, Louisiana State University Health Sciences Center, New Orleans, LA.
authors.forename: Annette
authors.initials: A
authors.lastname: Hurley
authors.affiliation: Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA.
authors.forename: Fern
authors.initials: F
authors.lastname: Tsien
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications; D003922:Diabetes Mellitus, Type 1 / Q000150:complications; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000209:etiology*; D006801:Humans; D008297:Male; D014983:Xeroderma Pigmentosum / Q000150:complications*