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

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...

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Autores principales: Lee, Su Ji, Kim, Tae Yong, Hong, Seungbeen, Byun, Justin, Cho, Sung-Rae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Neurorehabilitation 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879495/
https://www.ncbi.nlm.nih.gov/pubmed/36743429
http://dx.doi.org/10.12786/bn.2021.14.e20
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author Lee, Su Ji
Kim, Tae Yong
Hong, Seungbeen
Byun, Justin
Cho, Sung-Rae
author_facet Lee, Su Ji
Kim, Tae Yong
Hong, Seungbeen
Byun, Justin
Cho, Sung-Rae
author_sort Lee, Su Ji
collection PubMed
description 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.
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spelling pubmed-98794952023-02-02 Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report Lee, Su Ji Kim, Tae Yong Hong, Seungbeen Byun, Justin Cho, Sung-Rae Brain Neurorehabil Case Report 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. Korean Society for Neurorehabilitation 2021-06-08 /pmc/articles/PMC9879495/ /pubmed/36743429 http://dx.doi.org/10.12786/bn.2021.14.e20 Text en Copyright © 2021. Korean Society for Neurorehabilitation https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0 (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Lee, Su Ji
Kim, Tae Yong
Hong, Seungbeen
Byun, Justin
Cho, Sung-Rae
Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report
title Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report
title_full Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report
title_fullStr Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report
title_full_unstemmed Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report
title_short Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report
title_sort pelizaeus-merzbacher disease with plp1 exon 1 duplication, previously misdiagnosed as cerebral palsy: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879495/
https://www.ncbi.nlm.nih.gov/pubmed/36743429
http://dx.doi.org/10.12786/bn.2021.14.e20
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