Pearson's syndrome without marrow involvement

Arch Dis Child. 1997 Jul;77(1):56-7. doi: 10.1136/adc.77.1.56.


A child with a mitochondrial DNA deletion who presented with pancreatic exocrine insufficiency is reported. Though she developed many other features of Pearson's syndrome, there was no bone marrow involvement. Syndromes associated with mitochondrial DNA defects are highly variable and absence of one feature should not inhibit investigation.

Publication types

  • Case Reports

MeSH terms

  • Blotting, Southern
  • Bone Marrow
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Kidney Tubules / pathology
  • Lactic Acid / blood
  • Liver / pathology
  • Pancreatic Diseases / blood
  • Pancreatic Diseases / genetics*
  • Pancreatic Diseases / pathology
  • Syndrome


  • DNA, Mitochondrial
  • Lactic Acid