title: Pearson disease in an infant presenting with severe hypoplastic anemia, normal pancreatic function, and progressive liver failure.
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.
authors.affiliation: *Department of Pediatrics †The Pediatric Hematology Unit, Carmel Medical Center, Haifa, Israel.
authors.forename: Adi
authors.initials: A
authors.lastname: Shapira
authors.forename: Muriel
authors.initials: M
authors.lastname: Konopnicki
authors.forename: Mohammed
authors.initials: M
authors.lastname: Hammad-Saied
authors.forename: Evelyn
authors.initials: E
authors.lastname: Shabad
mesh_terms: D000748:Anemia, Macrocytic / Q000150:complications* / Q000473:pathology; D000756:Anemia, Sideroblastic / Q000150:complications* / Q000473:pathology; D001855:Bone Marrow Diseases / Q000150:complications* / Q000473:pathology; D005260:Female; D042381:Granulocyte Precursor Cells / Q000473:pathology; D006801:Humans; D007223:Infant; D017093:Liver Failure / Q000150:complications* / Q000473:pathology; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000209:etiology; D009000:Monocytes / Q000473:pathology; D010186:Pancreatic Function Tests; D010198:Pancytopenia / Q000150:complications* / Q000473:pathology; D011379:Prognosis; D013577:Syndrome