Pearson's marrow/pancreas syndrome
Last reviewed 01/2018
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.