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A case of pigmentary orthochromatic leukodystrophy with findings of proton MR spectroscopy and serial brain MRIs

Cited 8 time in Web of Science Cited 8 time in Scopus
Authors
Sohn, Sung-Yeon; Ko, Young-Jin; Hong, Ji Man; Kim, Se-Hyuk; Kim, Jang-Hee; Moon, So Young; Chi, Je-Geun; Kim, Ho-Sung
Issue Date
2010-08-15
Publisher
ELSEVIER SCIENCE BV
Citation
JOURNAL OF THE NEUROLOGICAL SCIENCES; Vol.295 01월 02일; 23-26
Keywords
Pigmentary orthochromatic leukodystrophyMRIMR spectroscopyHereditary diffuse leukoencephalopathy with axonal spheroids
Abstract
Despite a few case reports over the last 60 years, little progress has been made in defining the phenotype, genotype and pathophysiological mechanisms involved in pigmentary orthochromatic leukodystrophy (POLO). Furthermore, there is currently no data available regarding MRI in patients in the relatively early stages of POLD. Here, we present a 37 year old male patient with brain biopsy-proven POLD who had brain MRIs three times during the first year of his clinical course and proton MR spectroscopy (MRS) throughout his diagnostic evaluation. This patient with POLD was clinically characterized by seizures, rapidly progressive frontally predominant dementia and gait disturbance. The brain MRIs taken serially over the first year revealed progressive development of frontal-predominant white matter changes in the periventricular areas during the earlier periods, which later spread into the deep white matter. His MRS was helpful in the diagnostic approach because the results enabled demyelinating changes to be distinguished from other disease processes such as ischemia, gliosis or tumors. The MRS findings also reflected the disease dynamics because metabolic derangement was observed, even in the white matter that appeared normal. The findings presented here provide insight into the dynamics of POLD. (C) 2010 Elsevier B.V. All rights reserved.
ISSN
0022-510X
Language
English
URI
https://hdl.handle.net/10371/76659
DOI
https://doi.org/10.1016/j.jns.2010.05.026
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College of Medicine/School of Medicine (의과대학/대학원)Pathology (병리학전공)Journal Papers (저널논문_병리학전공)
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