Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Lulu Xu; Meixiang Zhong; Yajuan Wang; Zhihong Wang; Jie Song; Jing Zhao; Hongyun Yu; Zhencui Yang; Wenjing Yan; Xueping Zheng

doi:10.3389/fneur.2020.576881

Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Front Neurol. 2021 Jan 11:11:576881. doi: 10.3389/fneur.2020.576881. eCollection 2020.

Authors

Affiliations

¹ Department of Geriatric Medicine, The Affiliated Hospital of Qingdao University, Qingdao, China.
² Department of Geriatric Medicine, The Qingdao Eighth People's Hospital, Qingdao, China.
³ Department of Clinical Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, China.
⁴ Department of Neurology, The Affiliated Hospital of Qingdao University, Qingdao, China.

Abstract

Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe vision disturbance, who was initially misdiagnosed as multiple sclerosis. Through genetic screening, this patient was later identified to have a full deletion of exon 4 and the novel p.P220L mutation in the arylsulfatase A (ARSA) gene. These mutations are reported for the first time in MLD. These data will help to update the mutation profiles of patients with MLD.

Keywords: adult onset; arylsulphatase A; deletion mutation; metachromatic leukodystrophy; visual dysfunction.

Publication types

Case Reports