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Three young adult patients with Pelizaeus-Merzbacher disease who showed only waves I and II in auditory brainstem responses but had good auditory perception.

Three young adult males with Pelizaeus-Merzbacher disease have been followed up since childhood. This disease is thought to be a dysmyelinating disorder of the brain during the prenatal period caused by gene mutations. The patients manifested horizontal nystagmus and severe rigidity of the extremiti...

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Published in:Acta Oto-Laryngologica Vol. 125; no. 9; pp. 1018 - 1024
Main Authors: Kaga K, Tamai F, Kodama M, Kodama K
Format: case study Journal Article
Published: Taylor & Francis Ltd Sep2005
Online Access:View this record in EBSCOhost
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      dt: Sep2005
      vid: 125
      iid: 9
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      pub: Taylor & Francis Ltd
      place: Philadelphia, Pennsylvania
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        10.1080/00016480510038581
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        atl: Three young adult patients with Pelizaeus-Merzbacher disease who showed only waves I and II in auditory brainstem responses but had good auditory perception.
      aug:
        au:
          Kaga K
          Tamai F
          Kodama M
          Kodama K
      sug:
        subj:
          Auditory Perception
          Demyelinating Diseases Physiopathology
          Evoked Potentials, Auditory, Brainstem
          Adult
          Audiometry, Pure-Tone
          Auditory Threshold
          Brain Pathology
          Magnetic Resonance Imaging
          Male
          Adult: 19-44 years
          Male
      ab: Three young adult males with Pelizaeus-Merzbacher disease have been followed up since childhood. This disease is thought to be a dysmyelinating disorder of the brain during the prenatal period caused by gene mutations. The patients manifested horizontal nystagmus and severe rigidity of the extremities. Although the patients showed only waves I and II in auditory brainstem responses, they had relatively good hearing ability at ~=30  dB. They could not speak words at all but could hear well and enjoy listening to conversation and music. One of them had a normal hearing threshold in pure-tone audiometry and a normal speech discrimination rate in speech audiometry. This can be explained by a nerve conduction blockade through dysmyelinated axons or the desynchronization of neurons and nerves responsible for the waves following waves I and II. At present, all three patients are living with their families. We report their present hearing, speech and language abilities.
      pubtype: Academic Journal
      doctype:
        case study
        Journal Article
      ougenre: Article
    language: English
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