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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Korean Society for Neurorehabilitation
2021
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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. |
format | Online Article Text |
id | pubmed-9879495 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Korean Society for Neurorehabilitation |
record_format | MEDLINE/PubMed |
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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