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Pearson's marrow/pancreas syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Pearson's syndrome is caused by a sporadic insertion or deletion mutation of the mitochondrial DNA.

It is usually fatal in childhood, being characterised by:

  • pancytopaenia
  • pancreatic fibrosis
  • splenic atrophy

Patients who survive Pearson's syndrome go on to develop the Kearns-Sayre syndrome.


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