Abstract
MR imaging features of mitochondrial encephalomyopathies, lactic acidosis, and stroke-like episodes, Kearns-Sayre/Pearson syndrome have been described in the literature. We describe extensive white matter changes with abnormal signal intensity lesions involving the deep gray nuclei and myelinated white matter tracts in an 18-year-old female with a large-scale 7.4 kb mitochondrial DNA deletion and a atypical presentation of Kearns-Sayre syndrome. Restricted diffusion due to status spongiosus at the involved sites is also discussed.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Moraes CT, DiMauro S, Zeviani M et al. (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320:1293–1299
Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651–653
Goto Y, Nonaka I, Horai S (1991) A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochem Biophys Acta 1097:238–240
DiMauro S, Bonilla E, Lombes A, Shanske S, Minetti C, Moraes C (1990) Mitochondrial encephalomyopathies. Neurol Clin 8:483–506
Hammans S, Sweeney M, Hanna M, Brockington M, Morgan-Hughes J, Harding A (1995) The mitochondrial DNA transfer RNALeu(UUR) A → G (3243) mutation: a clinical and genetic study. Brain 118:721–734
Kearns T, Sayre G (1958) Retinitis pigmentosa, external ophthalmoplegia and complete heart block: unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 60:280–289
Yonemura K, Hasegawa Y, Kimura K, Minematsu K, Yamaguchi T (2001) Diffusion-weighted MR imaging in a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Am J Neuroradiol 22:269–272
Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H (1998) Neuroradiologic findings in children with mitochondrial disorders. Am J Neuroradiol 19:369–377
Castillo M, Kwock L, Green C (1995) MELAS syndrome: imaging and proton MR spectroscopic findings. Am J Neuroradiol 16:2333–2339
Mittal S, Farmer P, Kalina P, Kingsley PB, Halperin J (2002) Correlation of diffusion-weighted magnetic resonance imaging with neuropathology in Creutzfeld-Jakob disease. Arch Neurol 59:128–134
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sacher, M., Fatterpekar, G.M., Edelstein, S. et al. MRI findings in an atypical case of Kearns-Sayre syndrome: a case report. Neuroradiology 47, 241–244 (2005). https://doi.org/10.1007/s00234-004-1314-z
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00234-004-1314-z