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MRI findings in juvenile Huntington's disease
Juvenile Huntington's disease is a rare neurodegenerative disorder that first affects the basal ganglia. Presented here is a case of juvenile Huntington's disease in an 8-year-old male. Clinical features included epilepsy and developmental delay. Imaging findings showed severe atrophy of t...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653011/ https://www.ncbi.nlm.nih.gov/pubmed/33204383 http://dx.doi.org/10.1016/j.radcr.2020.10.041 |
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author | Arraj, Patrick Robbins, Kyle Dengle Sanchez, Lauren Veltkamp, Daniel L. Pfeifer, Cory M. |
author_facet | Arraj, Patrick Robbins, Kyle Dengle Sanchez, Lauren Veltkamp, Daniel L. Pfeifer, Cory M. |
author_sort | Arraj, Patrick |
collection | PubMed |
description | Juvenile Huntington's disease is a rare neurodegenerative disorder that first affects the basal ganglia. Presented here is a case of juvenile Huntington's disease in an 8-year-old male. Clinical features included epilepsy and developmental delay. Imaging findings showed severe atrophy of the caudate nuclei and putamina which prompted a genetic evaluation. The diagnosis was confirmed via molecular analysis which revealed the amplified CAG triplet characteristic of this disorder. This case report highlights the imaging features common in this rare cause of pediatric epilepsy. |
format | Online Article Text |
id | pubmed-7653011 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-76530112020-11-16 MRI findings in juvenile Huntington's disease Arraj, Patrick Robbins, Kyle Dengle Sanchez, Lauren Veltkamp, Daniel L. Pfeifer, Cory M. Radiol Case Rep Case Report Juvenile Huntington's disease is a rare neurodegenerative disorder that first affects the basal ganglia. Presented here is a case of juvenile Huntington's disease in an 8-year-old male. Clinical features included epilepsy and developmental delay. Imaging findings showed severe atrophy of the caudate nuclei and putamina which prompted a genetic evaluation. The diagnosis was confirmed via molecular analysis which revealed the amplified CAG triplet characteristic of this disorder. This case report highlights the imaging features common in this rare cause of pediatric epilepsy. Elsevier 2020-11-06 /pmc/articles/PMC7653011/ /pubmed/33204383 http://dx.doi.org/10.1016/j.radcr.2020.10.041 Text en © 2020 The Authors. Published by Elsevier Inc. on behalf of University of Washington. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Arraj, Patrick Robbins, Kyle Dengle Sanchez, Lauren Veltkamp, Daniel L. Pfeifer, Cory M. MRI findings in juvenile Huntington's disease |
title | MRI findings in juvenile Huntington's disease |
title_full | MRI findings in juvenile Huntington's disease |
title_fullStr | MRI findings in juvenile Huntington's disease |
title_full_unstemmed | MRI findings in juvenile Huntington's disease |
title_short | MRI findings in juvenile Huntington's disease |
title_sort | mri findings in juvenile huntington's disease |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653011/ https://www.ncbi.nlm.nih.gov/pubmed/33204383 http://dx.doi.org/10.1016/j.radcr.2020.10.041 |
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