An unusual case of X-linked adrenoleukodystrophy with auditory processing difficulties as the first and sole clinical manifestation

Doris Eva Bamiou, Rosalyn Davies, Steve Jones, Frank Musiek, Peter Rudge, John Stevens, Linda M. Luxon

Research output: Contribution to journalArticle

6 Scopus citations


X-linked adrenoleukodystrophy (X-ALD) is characterized by demyelination that is associated with a deficient beta-oxidation of very long chain fatty acids. We report the unusual case of a male adult with X-ALD who was diagnosed at the age of 26 by a brain MRI performed because his brother had been diagnosed with a rapidly deteriorating form of X-ALD. His sole symptom was hearing difficulties in the presence of a normal audiogram since childhood. He has remained stable for seven years. Central auditory testing in our patient revealed severe deficits in several auditory processes. These findings correlated with involvement of the auditory pathway at the level of the trapezoid body, and posterior corpus callosum in particular, on his brain MRI. This case highlights not only the need for thorough audiological investigation of the patient who complains of hearing difficulties in the presence of a normal audiogram, but also that audiological investigations could be of value in the phenotypic evaluation of cases with adrenoleukodystrophy.

Original languageEnglish (US)
Pages (from-to)152-160
Number of pages9
JournalJournal of the American Academy of Audiology
Issue number2
Publication statusPublished - Feb 2004
Externally publishedYes



  • Adrenoleukodystrophy
  • Auditory processing
  • Brainstem
  • Central auditory disorders
  • Corpus callosum

ASJC Scopus subject areas

  • Speech and Hearing
  • Otorhinolaryngology

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