An audiological profiling in metachromatic leukodystrophy: a case study
DOI:
https://doi.org/10.18203/issn.2454-5929.ijohns20222451Keywords:
Metachromatic leukodystrophy, Otoacoustic emission, Brainstem evoked response audiometry, Impedance audiometryAbstract
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.
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References
Jabbehdari S, Rahimian E, Jafari N, Sanii S, Khayatzadehkakhki S, Biglari H. The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients. Iran J Child Neurol. 2015;9(3):57-61.
Shaimardanova AA, Chulpanova DS, Solovyeva VV, Mullagulova AI, Kitaeva KV, Allegrucci C, et al. Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches. Front Med (Lausanne). 2020;7:576221.
Liaw HR, Lee HF, Chi CS, Tsai CR. Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia. Orphanet J Rare Dis. 2015;10:144.
Cesani M, Lorioli L, Grossi S, Amico G, Fumagalli F, Spiga I, et al. Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. Hum Mutat. 2016;37(1):16-27.
NLM. Metachromatic leukodystrophy, 2021. Available at: https://medlineplus.gov/genetics/ condition/metachromatic-leukodystrophy/. Accessed on 01 August 2022.
Borges FM, Costa MJGD, Carneiro ZA, Lourenço CM. Metachromatic leukodystrophy: pediatric presentation and the challenges of early diagnosis. Rev Assoc Med Bras (1992). 2020;66(10):1344-50.
Alvarez NT, Bautista-Niño PK, Trejos-Suárez J, Serrano-Diaz NC. Metachromatic leukodystrophy: Diagnosis and treatment challenges. Bionatura. 2021;6(3):2083-90.
Pandit L, Kapadia R, Kini P, Rao S. Metachromatic leukodystropy presenting with extrapyramidal disturbances. Indian Pediatr. 1994;31(6):690-4.
Lugowska A, Mierzewska H, Bekiesińska-Figatowska M, Szczepanik E, Goszczańska-Ciuchta A, Bednarska-Makaruk M. A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy. J Neurol Sci. 2014;338(1-2):214-7.
Sevin C, Cartier-Lacave N, Aubourg P. Gene therapy in metachromatic leukodystrophy. Int J Clin Pharmacol Ther. 2009;47(1):S128-31.
Yang J, Cao J, Li Y, Zheng H, Li J, Liang Y, et al. Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014;31(5):615-8.
Kehrer C, Blumenstock G, Raabe C, Krägeloh-Mann I. Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy. Dev Med Child Neurol. 2011;53(2):156-60.
