Pearson syndrome is a rare multisystem mitochondrial cytopathy that is often fatal in early infancy or early childhood and is caused by deletions in mitochondrial (mt) DNA resulting in a defect of oxidative phosphorylation. Pearson syndrome is defined as refractory sideroblastic anemia with vacuolated marrow precursors and with deletion of mitochondrial DNA. We report here a 6-month-old female infant who became ill with fever, vomiting, and diarrhea after drinking water from her home in the southeast region of the United States, which had recently been devastated by the catastrophic hurricane Katrina. She presented to an overwhelmed local hospital emergency department in shock with severe anemia. She was stabilized and evacuated to our institution, where additional workup also revealed severe metabolic acidosis, failure to thrive, neutropenia, thrombocytopenia, and exocrine pancreatic dysfunction. She was diagnosed with Pearson syndrome after bone marrow examination revealed the characteristic vacuolated marrow precursors and Southern blot analysis confirmed a large mtDNA deletion. Children with Pearson syndrome are most often diagnosed in early infancy with bone marrow and pancreatic dysfunction. The extent of multiple-organ involvement is quite variable. In the past, children with Pearson syndrome were not expected to survive past infancy or early childhood. Most children die due to severe infection, metabolic acidosis, or liver failure. However, with proper diagnosis, careful monitoring, and supportive care, children can live longer. Some children medically supported through infancy may recover marrow and pancreatic function. This case is presented to review the diagnosis, monitoring, and supportive treatment of Pearson syndrome because this syndrome is probably underdiagnosed and must be considered in infants and children with cytopenias associated with sepsis, acidosis, and renal or liver disease.
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