title: Audiometric abnormalities in children with Gaucher disease type 3.
abstract: 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.
authors.affiliation: Department of Audiological Medicine, Great Ormond Street Hospital for Children, London, UK. doriseva@ndirect.co.uk
authors.forename: D E
authors.initials: DE
authors.lastname: Bamiou
authors.forename: P
authors.initials: P
authors.lastname: Campbell
authors.forename: A
authors.initials: A
authors.lastname: Liasis
authors.forename: J
authors.initials: J
authors.lastname: Page
authors.forename: T
authors.initials: T
authors.lastname: Sirimanna
authors.forename: S
authors.initials: S
authors.lastname: Boyd
authors.forename: A
authors.initials: A
authors.lastname: Vellodi
authors.forename: C
authors.initials: C
authors.lastname: Harris
mesh_terms: D000158:Acoustic Impedance Tests; D000293:Adolescent; D001299:Audiometry; D001301:Audiometry, Pure-Tone; D001933:Brain Stem / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004292:Dominance, Cerebral / Q000235:genetics; D016057:Evoked Potentials, Auditory, Brain Stem / Q000235:genetics; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005838:Genotype; D006313:Hearing Loss, Central / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D017084:Otoacoustic Emissions, Spontaneous / Q000235:genetics; D012022:Reflex, Acoustic / Q000235:genetics