Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Radiology Case Reports
Subjects:
Brain
Diffusion-weighted imaging
Kearns-Sayre syndrome
MRI
Online Access:http://www.sciencedirect.com/science/article/pii/S193004332500192X
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Summary: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.
ISSN:1930-0433

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