Fig. 3
From: Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
Diagnostic algorithm for suspected Pearson syndrome. Diagnosis of Pearson syndrome is suggested by patient history, clinical symptoms and laboratory findings. The key diagnostic procedures are genetic analysis to detect single large-scale mitochondrial DNA (mtDNA) deletions in blood cells and bone marrow examination. *The single large mtDNA deletion can be also be present in other tissues such as buccal swab and/or urinary epithelial cells in majority of patients [4]