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Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report
BACKGROUND: Acrodysostosis (ACRO) is a rare disorder of peripheral bone development which can be either sporadic or inherited with mutations in the PRKAR1A or PDE4D genes. The resulting phenotypical characteristics are variable and overlap with other dysostosis conditions, making diagnosis difficult...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Scientific Scholar
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9610676/ https://www.ncbi.nlm.nih.gov/pubmed/36324970 http://dx.doi.org/10.25259/SNI_685_2022 |
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author | Lee, Benjamin Joseph Villeneuve, Lance Martin, Michael |
author_facet | Lee, Benjamin Joseph Villeneuve, Lance Martin, Michael |
author_sort | Lee, Benjamin Joseph |
collection | PubMed |
description | BACKGROUND: Acrodysostosis (ACRO) is a rare disorder of peripheral bone development which can be either sporadic or inherited with mutations in the PRKAR1A or PDE4D genes. The resulting phenotypical characteristics are variable and overlap with other dysostosis conditions, making diagnosis difficult without genotyping. Vertebral malformations have been reported with ACRO resulting in slowly progressive spinal cord compression leading to radiculopathy or myelopathy. CASE DESCRIPTION: A 19-year-old female diagnosed with ACRO presented with progressively worsening lower extremity paraparesis, sensory loss, and urinary retention; she was wheelchair-bound. A magnetic resonance imaging showed cord signal change at the T2/T3 levels with accompanying diffuse cord edema between T6-T8. Six months following a T2/T3 and T6/T7 laminectomy, the patient’s symptoms improved, but she still required a wheelchair. CONCLUSION: Patients with ACRO should be regularly monitored for cord compression to allow for early surgical decompression to prevent long-term, devasting neurological compromise. |
format | Online Article Text |
id | pubmed-9610676 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Scientific Scholar |
record_format | MEDLINE/PubMed |
spelling | pubmed-96106762022-11-01 Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report Lee, Benjamin Joseph Villeneuve, Lance Martin, Michael Surg Neurol Int Case Report BACKGROUND: Acrodysostosis (ACRO) is a rare disorder of peripheral bone development which can be either sporadic or inherited with mutations in the PRKAR1A or PDE4D genes. The resulting phenotypical characteristics are variable and overlap with other dysostosis conditions, making diagnosis difficult without genotyping. Vertebral malformations have been reported with ACRO resulting in slowly progressive spinal cord compression leading to radiculopathy or myelopathy. CASE DESCRIPTION: A 19-year-old female diagnosed with ACRO presented with progressively worsening lower extremity paraparesis, sensory loss, and urinary retention; she was wheelchair-bound. A magnetic resonance imaging showed cord signal change at the T2/T3 levels with accompanying diffuse cord edema between T6-T8. Six months following a T2/T3 and T6/T7 laminectomy, the patient’s symptoms improved, but she still required a wheelchair. CONCLUSION: Patients with ACRO should be regularly monitored for cord compression to allow for early surgical decompression to prevent long-term, devasting neurological compromise. Scientific Scholar 2022-10-21 /pmc/articles/PMC9610676/ /pubmed/36324970 http://dx.doi.org/10.25259/SNI_685_2022 Text en Copyright: © 2022 Surgical Neurology International https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Lee, Benjamin Joseph Villeneuve, Lance Martin, Michael Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report |
title | Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report |
title_full | Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report |
title_fullStr | Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report |
title_full_unstemmed | Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report |
title_short | Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report |
title_sort | laminectomy as treatment for abrupt neurological decline in acrodysostosis: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9610676/ https://www.ncbi.nlm.nih.gov/pubmed/36324970 http://dx.doi.org/10.25259/SNI_685_2022 |
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