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Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e31828b004f
Clinical and Laboratory Observations

Pearson Disease in an Infant Presenting With Severe Hypoplastic Anemia, Normal Pancreatic Function, and Progressive Liver Failure

Shapira, Adi MD*; Konopnicki, Muriel MD*; Hammad-Saied, Mohammed MD*; Shabad, Evelyn MD

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Abstract

Pearson disease is a rare, usually fatal, mitochondrial disorder affecting primarily the bone marrow and the exocrine pancreas. We report a previously healthy 10-week-old girl who presented with profound macrocytic anemia followed by pancytopenia, synthetic liver dysfunction with liver steatosis, and metabolic acidosis with high lactate levels. She had no pancreatic involvement. Multiple cytoplasmic vacuoles in myelocytes and monocytes were seen upon microscopic evaluation of the bone marrow. Genetic analysis of the mitochondrial genome revealed a 5 kbp deletion, thus establishing the diagnosis of Pearson disease.

Copyright © 2013 by Lippincott Williams & Wilkins

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