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Audiometric abnormalities in children with Gaucher disease type 3
D E Bamiou1, P Campbell, A Liasis
1Department of Audiological Medicine, Great Ormond Street Hospital for Children, London, UK. doriseva@ndirect.co.uk
Neuropediatrics
|August 25, 2001
Summary
Audiological tests reveal brainstem abnormalities in children with Gaucher type 3 disease. These findings suggest that audiological assessments are crucial for diagnosing and monitoring neurological involvement in Gaucher disease patients.
Area of Science:
- Neurology
- Genetics
- Audiology
Background:
- Enzyme replacement therapy shows promise for Gaucher disease types 1 and 3.
- Neurological progression in Gaucher type 3 necessitates effective monitoring strategies.
- Early detection and evaluation of neuronopathic involvement are critical for Gaucher type 3 management.
Purpose of the Study:
- To assess brainstem involvement in pediatric Gaucher type 3 patients using audiological tests.
- To determine the utility of audiological test batteries in evaluating neurological deficits in Gaucher type 3.
Main Methods:
- Nine patients with Gaucher type 3 disease were evaluated.
- A comprehensive audiological test battery was employed, including audiometry, auditory brainstem evoked responses (ABR), acoustic reflexes, and medial olivo-cochlear suppression tests.
- Tests targeted overlapping but distinct efferent and afferent pathways and brainstem structures.
Main Results:
- Abnormalities observed included bilateral raised acoustic reflexes.
- Poor medial olivo-cochlear suppression was noted in patients.
- Auditory brainstem evoked potentials (ABR) were significantly impaired.
Conclusions:
- The audiological findings suggest potential lesions in the dorsomedial brainstem in Gaucher type 3.
- Combined audiological tests can provide valuable insights into neurological severity.
- These tests should be integrated into the standard diagnostic and long-term monitoring protocols for Gaucher type 3.