Pearson's marrow-pancreas syndrome in 2 Turkish children

Acta Haematol. 1992;87(4):206-9. doi: 10.1159/000204769.

Abstract

Two unrelated infants, 1 female and 1 male, with Pearson's syndrome are presented. Both patients presented with severe macrocytic refractory anemia starting early in infancy. Investigation of the mitochondrial (mt), DNA showed that one of the patients had a 4,977 bp deletion, and the other had a 4.5 kb mtDNA deletion. It is concluded that Pearson's syndrome should be borne in mind in the differential diagnosis of refractory anemia especially when there are accompanying gastrointestinal disturbances and metabolic acidosis.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Refractory / diagnosis*
  • Anemia, Refractory / ethnology
  • Anemia, Refractory / genetics
  • Anemia, Sideroblastic / diagnosis*
  • Anemia, Sideroblastic / ethnology
  • Anemia, Sideroblastic / genetics
  • Base Sequence
  • Bone Marrow Diseases / diagnosis*
  • Bone Marrow Diseases / ethnology
  • Bone Marrow Diseases / genetics
  • Chromosome Deletion
  • DNA, Mitochondrial / analysis
  • DNA, Mitochondrial / genetics
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Pancreatic Diseases / diagnosis*
  • Pancreatic Diseases / ethnology
  • Pancreatic Diseases / genetics
  • Syndrome
  • Turkey

Substances

  • DNA, Mitochondrial