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European Journal of Pediatrics

, Volume 152, Issue 5, pp 428–432 | Cite as

An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency

  • J. Christodoulou
  • R. Petrova-Benedict
  • B. H. Robinson
  • V. Jay
  • J. T. R. Clarke
Medical Genetics

Abstract

We report the case of a 16-month-old male with the neonatal appearance of Marfan syndrome (NMS), with dolichocephaly, a long midface, deep-set eyes, arachnodactyly, dislocated lenses and carciovascular abnormalities. The presence of persistent lactic acidosis led to studies which disclosed mitochondrial complex I deficiency. We speculate that this unusual association may be due to the combination of an inherited mutation affecting complex I activity along with a de novo mutation disrupting the corresponding locus and an adjacent NMS locus on the homologous autosome. The possibility that the phenotype observed in this patient is directly due to the mitochondrial defect cannot be excluded.

Key words

Marfan NADH-coenzyme Q reductase Lactic acidosis Respiratory chain Mitochondrial myopathy 

Abbreviations

NMS

neonatal Marfan syndrome

mtDNA

mitochondrial DNA

MELAS

mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

MERRF

myoclonus epilepsy, ragged red fibres

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Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • J. Christodoulou
    • 1
  • R. Petrova-Benedict
    • 1
  • B. H. Robinson
    • 1
  • V. Jay
    • 2
  • J. T. R. Clarke
    • 1
  1. 1.Division of Clinical GeneticsHospital for Sick ChildrenTorontoCanada
  2. 2.Division of PathologyHospital for Sick ChildrenTorontoCanada

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