Hearing Loss in Pompe Disease Revisited: Results from a Study of 24 Children

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2010 Jul 3

PMID 20596893

Citations 23

Authors

Carine I van Capelle

Andre Goedegebure

Nienke C Homans

Hans L J Hoeve

Arnold J Reuser

Ans T van der Ploeg

Affiliations

Soon will be listed here.

Abstract

Little information is available regarding the auditory function in Pompe patients. Hearing loss has been reported in classic infantile patients, but it is still unknown whether central nervous system involvement interferes with auditory function and whether enzyme replacement therapy can improve hearing. Auditory function has not been studied in children with milder forms of the disease. We analyzed repetitive auditory brainstem response measurements and pure tone audiometry in 24 children with Pompe disease. Only 1 of 13 patients with milder phenotypes showed recurrent conductive hearing loss, while 10 out of 11 classic infantile patients had sensorineural hearing defects. These patients also had a high prevalence of conductive hearing loss. Five patients showed evidence of mild retrocochlear pathology, suggestive of glycogen accumulation in the central nervous system. Hearing loss persisted during therapy in all patients. The results emphasize the need for careful monitoring of auditory function in classic infantile Pompe patients, and for early implementation of hearing aids to protect speech and language development.

Citing Articles

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