Pediatric Neurology
Volume 32, Issue 5 , Pages 334-340 , May 2005

Atypical Presentations of Leigh Syndrome: A Case Series and Review

  • Richard J. Huntsman, MD

      Affiliations

    • Department of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada
    • ,
  • D. Barry Sinclair, MD

      Affiliations

    • Department of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada
    • Corresponding Author InformationCommunications should be addressed to: Dr. Sinclair; Director, Division of Pediatric Neurology; 2C3 WCM Health Sciences Center; University of Alberta; Edmonton, Alberta; Canada, T6G-2B7.
    • ,
  • Ravi Bhargava, MD

      Affiliations

    • Department of Pediatric Radiology, University of Alberta, Edmonton, Alberta, Canada
    • ,
  • Alicia Chan, MD

      Affiliations

    • Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada

Received 8 June 2004 ,Accepted 20 December 2004.

References 

  1. Leigh D . Subacute necrotizing encephalomyelopathy in an infant . J Neurol Neurosurg Psychiat . 1951;14:216–221
  2. De Vivo DC . Leigh syndrome (Historical perspective and clinical variations) . Biofactors . 1998;7:269–272
  3. Barkovich AJ . Pediatric neuroradiology . Philadelphia: Lippincott Williams & Wilkins; 2000;
  4. Rahman S , Block RB , Dahl HHM , et al.   Leigh syndrome (Clinical features and biochemical and DNA abnormalities) . Ann Neurol . 1996;39:343–351
  5. Aicardi J . Diseases of the nervous system in childhood . London: Mac Keith Press; 1998;
  6. Cavanagh JB , Harding BN . Pathogenic factors underlying the lesions in Leigh’s disease . Brain . 1994;117:1357–1376
  7. Barkovitch AJ , Good WV , Koch TK , Berg BO . Mitochondrial disorders (Analysis of their clinical and imaging characteristics) . AJNR . 1993;14:1119–1137
  8. Valanne L , Ketonen L , Majander A , Suomalainen A , Pihko H . Neuroradiological findings in children with mitochondrial disorders . AJNR . 1998;19:369–377
  9. Filiano JJ , Goldnethal MJ , Mamourian AC , Hall CC , Marin-Garcia J . Mitochondrial DNA depletion in Leigh syndrome . Pediatr Neurol . 2002;26:239–242
  10. Eymard B , Hauw JJ . Mitochondrial encephalomyopathies . Curr Opin Neurol Neurosurg . 1992;5:909–916
  11. Chinnery PF . Mitochondrial disorders overview . Gene Reviews 2002 . 2002; Posted Jan.
  12. Coker SB . Leigh disease presenting as Guillain-Barré syndrome . Pediatr Neurol . 1993;9:61–63
  13. Grunnet ML , Zalneraitis EL , Russman BS , Barwick MC . Juvenile Leigh’s encephalomyelopathy with peripheral neuropathy, myopathy, and cardiomyopathy . J Child Neurol . 1991;6:159–163
  14. Topcu M , Saatci I , Apak RA , Soylemezoglu F , Akcoren Z . Leigh syndrome in a 3 year old boy with unusual brain MR imaging and pathological findings . AJNR . 2000;21:224–227
  15. Tanji K , Kunimatsu T , Vu TH , Bonilla E . Neuropathological features of mitochondrial disorders . Semin Cell Devel Biol . 2001;12:429–439
  16. Savoiardo M , Zeviani M , Uziel G , Farina L . MRI in Leigh syndrome with SURF-1 gene mutation . Ann Neurol . 2002;51:138–139
  17. Carelli V , Baracca A , Barogi S , et al.   Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation . Arch Neurol . 2002;59:264–270

PII: S0887-8994(05)00034-2

doi: 10.1016/j.pediatrneurol.2004.12.009

Pediatric Neurology
Volume 32, Issue 5 , Pages 334-340 , May 2005

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