Published: 2022-09-26

An audiological profiling in metachromatic leukodystrophy: a case study

Pritam Mehta, Imran Ansari, Preeti Sahu, Debadatta Mahallik


Metachromatic leukodystrophy (MLD) is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems. The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein saposin B (SapB). Audiological test batteries were carried out, i.e.; behavioural observation audiometry (BOA), impedance audiometry, otoacoustic emission (OAE) and brainstem evoked response audiometry (BERA). Result showed there was no changes in behaviour towards the stimulus, has been noticed in BOA, bilateral A type tympanogram with absence of acoustic reflexes in all frequencies on Ipsi and contra-lateral stimulations and no wave Vth was found at 90 dBnHL in both ears even at repeated trials in BERA. Early identification of hearing loss offers children the opportunity to develop significantly improved language skills. Otologist and audiologist need to be taken care and to provide medical treatment as well as amplification device to the patients.


Metachromatic leukodystrophy, Otoacoustic emission, Brainstem evoked response audiometry, Impedance audiometry

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