Pearson syndrome in the neonatal period: two case reports and review of the literature

J Pediatr Hematol Oncol. 2009 Dec;31(12):947-51. doi: 10.1097/MPH.0b013e3181bbc4ef.

Abstract

Pearson syndrome is a multiorgan mitochondrial cytopathy that results from defective oxidative phosphorylation owing to mitochondrial DNA deletions. Prognosis is severe and death occurs in infancy or early childhood. This article describes 2 cases with a severe neonatal onset of the disease. A review of the literature reveals the atypical presentation of the disease in the neonatal period, which is often overlooked and underdiagnosed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Agranulocytosis / diagnosis*
  • Agranulocytosis / genetics
  • Anemia, Aplastic / diagnosis*
  • Anemia, Aplastic / genetics
  • Anemia, Macrocytic / diagnosis*
  • Anemia, Macrocytic / genetics
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Gene Deletion*
  • Humans
  • Infant, Newborn
  • Male
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Oxidative Phosphorylation
  • Syndrome
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / genetics

Substances

  • DNA, Mitochondrial