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
