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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

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

Author Information

*Department of Pediatrics

The Pediatric Hematology Unit, Carmel Medical Center, Haifa, Israel

The authors declare no conflict of interest.

Reprints: Adi Shapira, MD, Department of Pediatrics, Carmel Medical Center, 26 Hagat St., Zichron Yaakov 30900, Haifa, Israel (e-mail: adish8@clalit.org.il).

Received November 15, 2012

Accepted January 31, 2013

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