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...

Full description

Bibliographic Details
Main Authors: Si-yuan FAN, Jun NI, Yin-chang YANG, Jing-wen NIU, Qiang LU, Li-ying CUI
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2014-08-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/1025
_version_ 1819040047325773824
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
work_keys_str_mv AT siyuanfan progressivememorylossforoneyearandvisualchangesforthreemonths
AT junni progressivememorylossforoneyearandvisualchangesforthreemonths
AT yinchangyang progressivememorylossforoneyearandvisualchangesforthreemonths
AT jingwenniu progressivememorylossforoneyearandvisualchangesforthreemonths
AT qianglu progressivememorylossforoneyearandvisualchangesforthreemonths
AT liyingcui progressivememorylossforoneyearandvisualchangesforthreemonths