Pearson’s Syndrome

Published on 22/03/2015 by admin

Filed under Pediatrics

Last modified 22/04/2025

Print this page

This article have been viewed 1301 times

Chapter 443 Pearson’s Syndrome

Norma B. Lerner

Pearson’s syndrome is a form of congenital hypoplastic anemia that may be confused initially with Diamond-Blackfan syndrome or transient erythroblastopenia of childhood. It also involves the pancreas, kidney, and liver. The marrow failure usually appears in the neonatal period and is characterized by a macrocytic anemia and, occasionally, neutropenia and thrombocytopenia. The hemoglobin F level is elevated, and there are vacuolated erythroblasts and myeloblasts in the marrow. This very rare disorder is considered a unique variant of congenital sideroblastic anemia because the marrow also contains ringed sideroblasts. Associated clinical features include failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, villous atrophy with chronic diarrhea, and often early death.

This multiorgan disorder is due to sporadic, mitochondrial DNA deletions. There is heterogeneity in different tissues and between patients, accounting for the variable clinical picture. The proportion of deleted mtDNA in the bone marrow correlates with the severity of the hematologic picture, and a change in the percentage of tissue mtDNA types over time may be associated with spontaneous improvement of red blood cell hypoproliferation. Therapy includes transfusions of red blood cells as needed. Granulocyte colony-stimulating factor can reverse episodes of severe neutropenia.

Finsterer J. Hematological manifestations of primary mitochondrial disorders. Acta Haematol. 2007;118:88-98.

Fleming MD. The genetics of inherited sideroblastic anemias. Semin Hematol. 2002;39:270-281.

Knerr I, Metzler M, Niemeyer CM, et al. Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. J Pediatr Hematol Oncol. 2003;25:948-951.

Rotig A, Bourgeron T, Chretien D, et al. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet. 1995;4:1327-1330.

Related

Nelson Textbook of Pediatrics Expert Consult