Journal of Forensic and Legal Medicine
Volume 14, Issue 1 , Pages 42-45 , January 2007

Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy)

  • Regula Wick

      Affiliations

    • Forensic Science SA, 21 Divett Place, Adelaide, SA 5000, Australia
    • Address: Visiting Fellow, Forensic Pathology, Forensic Science SA and Department of Histopathology, Women’s and Children’s Hospital, Adelaide, Australia.
    • ,
  • Grace Scott

      Affiliations

    • Institute of Neurological Diseases, Institute of Medical and Veterinary Science, Adelaide, Australia
    • Department of Pathology, University of Adelaide, Adelaide, Australia
    • ,
  • Roger W. Byard

      Affiliations

    • Forensic Science SA, 21 Divett Place, Adelaide, SA 5000, Australia
    • Department of Pathology, University of Adelaide, Adelaide, Australia
    • Corresponding Author InformationCorresponding author. Tel.: +618 8226 7700; fax: +618 8226 7777.

Received 27 September 2005 ,Revised 1 January 2006 ,Accepted 1 January 2006.

References 

  1. DiMauro S, Andreu AL, De Vivo DC. Mitochondrial disorders. J Child Neurol. 2002;17:3S35–3S47
  2. DiMauro S, De Vivo DC. Genetic heterogeneity in Leigh syndrome (Letter). Ann Neurol. 1996;40:5–7
  3. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiat. 1951;14:216–221
  4. Huntsman RJ, Sinclair DB, Bhargava R, Chan A. Atypical presentation of Leigh syndrome: a case series and review. Pediatr Neurol. 2005;32:334–340
  5. Malojcic B, Brinar V, Poser C, Djakovic V. An adult case of Leigh disease. Clin Neurol Neurosurg. 2004;106:237–240
  6. *Morin C, Mitchell G, Larochelle J, Lambert M, Ogier H, Robinson BH, et al. Clinical, metabolic, and genetic aspects of cytochrome c oxidase deficiency in Saguenay-Lac-Saint-Jean. Am J Hum Genet. 1993;53:488–496
  7. Goldenberg PC, Steiner RD, Merkens LS, Dunaway T, Egan RA, Zimmerman EA, et al. Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency. Neurology. 2003;60:865–868
  8. *Van Maldergem L, Trijbels F, DiMauro S, Sindelar PJ, Musumeci O, Janssen A, et al. Coenzyme Q-responsive Leigh’s encephalopathy in two sisters. Ann Neurol. 2002;52:750–754
  9. Lerman-Sagie T, Leshinsky-Silver E, Watemberg N, Luckman Y, Lev D. White matter involvement in mitochondrial diseases. Mol Genet Metab. 2005;84:127–136
  10. Vogel H. Burden of proof in the postmortem diagnosis of mitochondrial disease: Leigh disease. Pediatr Dev Pathol. 2004;7:615–619
  11. Fulham M, Lawrence C, Harper C. Diagnostic clues in an adult case of Leigh’s disease. Med J Aust. 1988;149:320–322
  12. *Dahl HH. Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. Am J Hum Genet. 1998;63:1594–1597
  13. Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. J Med Genet. 2004;41:540–544
  14. Santorelli FM, Tanji K, Shanske S, Krishna S, Schmidt RE, Greenwood RS, et al. The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisting the past. Ann Neurol. 1998;44:962–964
  15. Martin MA, Blazquez A, Gutierrez-Solana LG, Fernández-Moreira D, Briones P, Andreu AL, et al. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Arch Neurol. 2005;62:659–661
  16. Gray F, Louarn F, Gherardi R, Eizenbaum JF, Marsault C. Adult form of Leigh’s disease: a clinico pathological case with CT scan examination. J Neurol Neurosurg Psychiat. 1984;47:1211–1215

PII: S1353-1131(06)00004-6

doi: 10.1016/j.jcfm.2006.01.002

Journal of Forensic and Legal Medicine
Volume 14, Issue 1 , Pages 42-45 , January 2007

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