Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy
Kearns-Sayre Syndrome (KSS) is a rare multisystem mitochondrial disorder affecting muscles, the central nervous system, and the endocrine system. KSS is characterized by T2WI/FLAIR hyperintensities in the subcortical white matter, brainstem, globi pallidi, thalami, and middle cerebellar peduncles. H...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-06-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S193004332500192X |
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| author | Megumi Matsukawa, MD Masayuki Maeda, MD, PhD Fumine Tanaka, MD, PhD Ryota Kogue, MD, PhD Maki Umino, MD, PhD Akisato Nishigaki, MD Hajime Sakuma, MD, PhD |
| author_facet | Megumi Matsukawa, MD Masayuki Maeda, MD, PhD Fumine Tanaka, MD, PhD Ryota Kogue, MD, PhD Maki Umino, MD, PhD Akisato Nishigaki, MD Hajime Sakuma, MD, PhD |
| author_sort | Megumi Matsukawa, MD |
| collection | DOAJ |
| description | Kearns-Sayre Syndrome (KSS) is a rare multisystem mitochondrial disorder affecting muscles, the central nervous system, and the endocrine system. KSS is characterized by T2WI/FLAIR hyperintensities in the subcortical white matter, brainstem, globi pallidi, thalami, and middle cerebellar peduncles. Here, we report a case of KSS with extraocular muscle atrophy in which MRI performed approximately 10 years after the initial MRI examination revealed lesion expansion and diffusion restriction of subcortical white matter affecting U-fibers. |
| format | Article |
| id | doaj-art-e11620fcf0f646d6a2da761ebd3f7ffe |
| institution | DOAJ |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-e11620fcf0f646d6a2da761ebd3f7ffe2025-08-20T03:09:07ZengElsevierRadiology Case Reports1930-04332025-06-012062646265010.1016/j.radcr.2025.02.088Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophyMegumi Matsukawa, MD0Masayuki Maeda, MD, PhD1Fumine Tanaka, MD, PhD2Ryota Kogue, MD, PhD3Maki Umino, MD, PhD4Akisato Nishigaki, MD5Hajime Sakuma, MD, PhD6Department of Radiology, Mie University School of Medicine, Tsu, 514-8507, Japan; Corresponding author.Department of Neuroradiology, Mie University School of Medicine, Tsu, 514-8507, JapanDepartment of Radiology, Mie University School of Medicine, Tsu, 514-8507, JapanDepartment of Radiology, Mie University School of Medicine, Tsu, 514-8507, JapanDepartment of Radiology, Mie University School of Medicine, Tsu, 514-8507, JapanDepartment of Neurology, Mie University School of Medicine, Tsu, 514-8507, JapanDepartment of Radiology, Mie University School of Medicine, Tsu, 514-8507, JapanKearns-Sayre Syndrome (KSS) is a rare multisystem mitochondrial disorder affecting muscles, the central nervous system, and the endocrine system. KSS is characterized by T2WI/FLAIR hyperintensities in the subcortical white matter, brainstem, globi pallidi, thalami, and middle cerebellar peduncles. Here, we report a case of KSS with extraocular muscle atrophy in which MRI performed approximately 10 years after the initial MRI examination revealed lesion expansion and diffusion restriction of subcortical white matter affecting U-fibers.http://www.sciencedirect.com/science/article/pii/S193004332500192XBrainDiffusion-weighted imagingKearns-Sayre syndromeMRI |
| spellingShingle | Megumi Matsukawa, MD Masayuki Maeda, MD, PhD Fumine Tanaka, MD, PhD Ryota Kogue, MD, PhD Maki Umino, MD, PhD Akisato Nishigaki, MD Hajime Sakuma, MD, PhD Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy Radiology Case Reports Brain Diffusion-weighted imaging Kearns-Sayre syndrome MRI |
| title | Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy |
| title_full | Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy |
| title_fullStr | Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy |
| title_full_unstemmed | Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy |
| title_short | Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy |
| title_sort | kearns sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy |
| topic | Brain Diffusion-weighted imaging Kearns-Sayre syndrome MRI |
| url | http://www.sciencedirect.com/science/article/pii/S193004332500192X |
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