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Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report

Authors
 Su Ji Lee  ;  Tae Yong Kim  ;  Seungbeen Hong  ;  Justin Byun  ;  Sung-Rae Cho 
Citation
 Brain & Neurorehabilitation, Vol.14(2) : e20, 2021-07 
Journal Title
Brain & Neurorehabilitation
ISSN
 1976-8753 
Issue Date
2021-07
Keywords
Pelizaeus-Merzbacher Disease ; Cerebral Palsy ; Next Generation Sequencing
Abstract
Pelizaeus-Merzbacher disease (PMD) is a X-linked recessive disorder with dysmyelination in central nervous system caused by proteolipid protein 1 (PLP1) gene mutation. We report a case of PMD with PLP1 exon 1 duplication, previously misdiagnosed as cerebral palsy (CP). A 25-year-old male previously diagnosed as CP visited our clinic with progressive weakness and spasticity of bilateral lower limbs. Next generation sequencing revealed hemizygous duplication of exon 1 in PLP1. Additionally, multiplex ligation-dependent probe amplification assay of the patient's mother showed the same mutation, which could finally confirm the diagnosis as PMD. This patient received comprehensive rehabilitation program, and helped the patient to achieve functional improvement. Proper diagnosis and therapeutic plan will be needed for the patients with PMD, before diagnosing CP rashly.
Files in This Item:
T202124671.pdf Download
DOI
10.12786/bn.2021.14.e20
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Cho, Sung-Rae(조성래) ORCID logo https://orcid.org/0000-0003-1429-2684
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/187508
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