Pearson's syndrome without marrow involvement.
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.
Morris
A A
AA
Institute of Child Health, London.
Lamont
P J
PJ
Clayton
P T
PT
D015139:Blotting, Southern; D001853:Bone Marrow; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007684:Kidney Tubules / Q000473:pathology; D019344:Lactic Acid / Q000097:blood; D008099:Liver / Q000473:pathology; D010182:Pancreatic Diseases / Q000097:blood / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
D004272:DNA, Mitochondrial; D019344:Lactic Acid