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Neuropediatrics 2001; 32(3): 136-141
DOI: 10.1055/s-2001-16611
Original Article

Georg Thieme Verlag Stuttgart · New York

Audiometric Abnormalities in Children with Gaucher Disease Type 3

Doris-Eva Bamiou1 , Pauline Campbell1 , Alki Liasis2 , J. Page1 , T. Sirimanna1 , S. Boyd2 , A. Vellodi3 , C. Harris4
  • 1 Department of Audiological Medicine, Great Ormond Street Hospital for Children, London, UK
  • 2 Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children, London, UK
  • 3 Metabolic Medicine Unit, Great Ormond Street Hospital for Children, London, UK
  • 4 Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK
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Publication History

Publication Date:
24 August 2001 (online)

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Exogenous enzyme replacement therapy achieves satisfactory biomedical correction in Gaucher type 1 disease and may halt or reverse neurological progression in type 3, while it does not appear to influence the outcome in type 2. In view of the therapeutic possibilities, early detection and monitoring of type 3 Gaucher disease, as well as evaluation of the effectiveness of enzyme therapy on neuronopathic involvement is necessary. The objective of this study was to evaluate the extent of brainstem disease in children with proven Gaucher type 3, by means of an audiological test battery. We studied 9 patients with Gaucher type 3 disease. The tests included baseline audiometric tests, as well as auditory brainstem evoked responses (ABR), acoustic reflexes and medial olivo-cochlear suppression by contralateral noise tests, that involve overlapping but not identical efferent and afferent pathways and brainstem structures. We found a constellation of abnormalities including bilaterally raised acoustic reflexes, poor medial olivo-cochlear suppression, and very poor brainstem evoked potentials. These abnormalities could be due to a single lesion in the dorsomedial brainstem, or to multiple lesions, and further study is needed to clarify this issue. Combined audiological tests may provide information on the severity of the neurological involvement and should therefore be part of a standard assessment for the diagnosis as well as for long term neurological monitoring of Gaucher type 3 patients.

Key words

Auditory brainstem - Evoked potentials - Acoustic reflex - Gaucher's disease

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Dr. Doris-Eva Bamiou

Audiology Department Great Ormond Street Hospital for Children, NHS Trust

Great Ormond Street

London WC1N 3JH

UK

Email: doriseva@ndirect.co.uk