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Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI).
Hallervorden-Spatz syndrome (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, dysarthric speech, and mental deterioration. No diagnostic biochemical test is yet available, and diagnosis of HSS can be confirmed only at autopsy by the characte...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Korean Academy of Medical Sciences
1993
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053717/ https://www.ncbi.nlm.nih.gov/pubmed/8305140 |
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author | Kim, D. W. Choi, Y. Kim, K. J. Ko, T. S. Hwang, Y. S. Kim, I. W. |
author_facet | Kim, D. W. Choi, Y. Kim, K. J. Ko, T. S. Hwang, Y. S. Kim, I. W. |
author_sort | Kim, D. W. |
collection | PubMed |
description | Hallervorden-Spatz syndrome (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, dysarthric speech, and mental deterioration. No diagnostic biochemical test is yet available, and diagnosis of HSS can be confirmed only at autopsy by the characteristic neuropathology including abnormal iron storage, disordered myelination, and loss of brain substance. We present two siblings with clinical features consistent with HSS, in whom magnetic resonance imaging (MRI) demonstrated the deposition of iron in the globus pallidus and the substantia nigra thus allowing an antemortem diagnosis of HSS. |
format | Text |
id | pubmed-3053717 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 1993 |
publisher | Korean Academy of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-30537172011-03-16 Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI). Kim, D. W. Choi, Y. Kim, K. J. Ko, T. S. Hwang, Y. S. Kim, I. W. J Korean Med Sci Research Article Hallervorden-Spatz syndrome (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, dysarthric speech, and mental deterioration. No diagnostic biochemical test is yet available, and diagnosis of HSS can be confirmed only at autopsy by the characteristic neuropathology including abnormal iron storage, disordered myelination, and loss of brain substance. We present two siblings with clinical features consistent with HSS, in whom magnetic resonance imaging (MRI) demonstrated the deposition of iron in the globus pallidus and the substantia nigra thus allowing an antemortem diagnosis of HSS. Korean Academy of Medical Sciences 1993-10 /pmc/articles/PMC3053717/ /pubmed/8305140 Text en |
spellingShingle | Research Article Kim, D. W. Choi, Y. Kim, K. J. Ko, T. S. Hwang, Y. S. Kim, I. W. Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI). |
title | Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI). |
title_full | Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI). |
title_fullStr | Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI). |
title_full_unstemmed | Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI). |
title_short | Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI). |
title_sort | hallervorden-spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (mri). |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053717/ https://www.ncbi.nlm.nih.gov/pubmed/8305140 |
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