Progressive memory loss for one year and visual changes for three months
<p>A 49-year-old Chinese male presented with memory loss and vision disturbances. Neurological examination revealed bilateral positive Babinski signs. Cognitive assessments showed cognitive impairments. Neuroimaging studies showed high-intensity signals on bilateral parietal lobes, occipital l...
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Format: | Article |
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Tianjin Huanhu Hospital
2014-08-01
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Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
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Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/1025 |
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author | Si-yuan FAN Jun NI Yin-chang YANG Jing-wen NIU Qiang LU Li-ying CUI |
author_facet | Si-yuan FAN Jun NI Yin-chang YANG Jing-wen NIU Qiang LU Li-ying CUI |
author_sort | Si-yuan FAN |
collection | DOAJ |
description | <p>A 49-year-old Chinese male presented with memory loss and vision disturbances. Neurological examination revealed bilateral positive Babinski signs. Cognitive assessments showed cognitive impairments. Neuroimaging studies showed high-intensity signals on bilateral parietal lobes, occipital lobes, temporal lobes, the splenium of the corpus callosum, and pyramidal tracts. Plasma very long chain fatty acids (VLCFA) assay was ordered and demonstrated abnormally high concentrations of C26:0, and abnormally high ratios of C24:0 and C26:0 to C22:0. This diagnosis was also supported by the pathogenic mutation detected in the <em>ACBD1</em> gene. There was no significant adrenal insufficiency, so replacement therapy was not initiated.</p><p> </p><p>doi: 10.3969/j.issn.1672-6731.2014.08.018</p> |
first_indexed | 2024-12-21T09:02:53Z |
format | Article |
id | doaj.art-9ff6bd349d6b4c2281535f3c6a26a672 |
institution | Directory Open Access Journal |
issn | 1672-6731 |
language | English |
last_indexed | 2024-12-21T09:02:53Z |
publishDate | 2014-08-01 |
publisher | Tianjin Huanhu Hospital |
record_format | Article |
series | Chinese Journal of Contemporary Neurology and Neurosurgery |
spelling | doaj.art-9ff6bd349d6b4c2281535f3c6a26a6722022-12-21T19:09:25ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67312014-08-011487387401021Progressive memory loss for one year and visual changes for three monthsSi-yuan FAN0Jun NI1Yin-chang YANG2Jing-wen NIU3Qiang LU4Li-ying CUI5Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, ChinaDepartment of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China<p>A 49-year-old Chinese male presented with memory loss and vision disturbances. Neurological examination revealed bilateral positive Babinski signs. Cognitive assessments showed cognitive impairments. Neuroimaging studies showed high-intensity signals on bilateral parietal lobes, occipital lobes, temporal lobes, the splenium of the corpus callosum, and pyramidal tracts. Plasma very long chain fatty acids (VLCFA) assay was ordered and demonstrated abnormally high concentrations of C26:0, and abnormally high ratios of C24:0 and C26:0 to C22:0. This diagnosis was also supported by the pathogenic mutation detected in the <em>ACBD1</em> gene. There was no significant adrenal insufficiency, so replacement therapy was not initiated.</p><p> </p><p>doi: 10.3969/j.issn.1672-6731.2014.08.018</p>http://www.cjcnn.org/index.php/cjcnn/article/view/1025AdrenoleukodystrophyCognition disordersCase reports |
spellingShingle | Si-yuan FAN Jun NI Yin-chang YANG Jing-wen NIU Qiang LU Li-ying CUI Progressive memory loss for one year and visual changes for three months Chinese Journal of Contemporary Neurology and Neurosurgery Adrenoleukodystrophy Cognition disorders Case reports |
title | Progressive memory loss for one year and visual changes for three months |
title_full | Progressive memory loss for one year and visual changes for three months |
title_fullStr | Progressive memory loss for one year and visual changes for three months |
title_full_unstemmed | Progressive memory loss for one year and visual changes for three months |
title_short | Progressive memory loss for one year and visual changes for three months |
title_sort | progressive memory loss for one year and visual changes for three months |
topic | Adrenoleukodystrophy Cognition disorders Case reports |
url | http://www.cjcnn.org/index.php/cjcnn/article/view/1025 |
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