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Original article
Pearson’s syndrome without marrow involvement

Abstract

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.

  • Pearson’s syndrome
  • mtDNA deletion
  • pancreatic exocrine insufficiency

https://doi.org/10.1136/adc.77.1.56

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