Literature DB >> 15789203

MRI findings in an atypical case of Kearns-Sayre syndrome: a case report.

Michael Sacher1, Girish M Fatterpekar, Simon Edelstein, Claude Sansaricq, Thomas P Naidich.   

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.

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Year:  2005        PMID: 15789203     DOI: 10.1007/s00234-004-1314-z

Source DB:  PubMed          Journal:  Neuroradiology        ISSN: 0028-3940            Impact factor:   2.804


  10 in total

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Journal:  AJNR Am J Neuroradiol       Date:  2001-02       Impact factor: 3.825

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5.  Mitochondrial encephalomyopathies.

Authors:  S DiMauro; E Bonilla; A Lombes; S Shanske; C Minetti; C T Moraes
Journal:  Neurol Clin       Date:  1990-08       Impact factor: 3.806

6.  Correlation of diffusion-weighted magnetic resonance imaging with neuropathology in Creutzfeldt-Jakob disease.

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Journal:  Arch Neurol       Date:  2002-01

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Journal:  AJNR Am J Neuroradiol       Date:  1998-02       Impact factor: 3.825

8.  Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

Authors:  C T Moraes; S DiMauro; M Zeviani; A Lombes; S Shanske; A F Miranda; H Nakase; E Bonilla; L C Werneck; S Servidei
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Journal:  AJNR Am J Neuroradiol       Date:  1995-02       Impact factor: 3.825

10.  The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

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Journal:  Brain       Date:  1995-06       Impact factor: 13.501

  10 in total
  6 in total

1.  Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion.

Authors:  Leonardo Vedolin; Carolina Fischinger Moura de Souza; Rogério Schwark Silveira; Bianca Cunha Lopes; Leticia Saldanha Laybauer; Maria Luiza Saraiva Pereira; Roberto Giugliani
Journal:  Childs Nerv Syst       Date:  2006-03-22       Impact factor: 1.475

2.  Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images.

Authors:  Wai-Yung Yu; Zheyu Xu; Hwei-Yee Lee; Aya Tokumaru; Jeanne M M Tan; Adeline Ng; Shigeo Murayama; C C Tchoyoson Lim
Journal:  Neuroradiology       Date:  2019-07-11       Impact factor: 2.804

3.  Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases.

Authors:  Y Sakai; R Kira; H Torisu; K Ihara; T Yoshiura; T Hara
Journal:  AJNR Am J Neuroradiol       Date:  2006-10       Impact factor: 3.825

Review 4.  Cardiological manifestations of mitochondrial respiratory chain disorders.

Authors:  A Berardo; O Musumeci; A Toscano
Journal:  Acta Myol       Date:  2011-06

5.  Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome.

Authors:  Meng Yu; Zhe Zhang; Qing-Qing Wang; Jing Liu; Yue-Huan Zuo; Lei Yu; Jiang-Xi Xiao; Wei Zhang; Yun Yuan; Zhao-Xia Wang
Journal:  Chin Med J (Engl)       Date:  2016-06-20       Impact factor: 2.628

6.  Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome.

Authors:  Josef Finsterer; Michael Winklehner; Claudia Stöllberger; Thomas Hummel
Journal:  Case Rep Neurol Med       Date:  2020-02-27
  6 in total

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