Pearson syndrome

Pathology

• sideroblastic anemia
• marrow cell vacuolization
• exocrine pancreatic dysfunction

Genetics

• mitochondrial DNA deletion > mitochondrial DNA duplication

Clinical manifestations

• pancytopenia
  • anemia (weakness, fatigue)
  • neutropenia (frequent infections)
  • thrombocytopenia (excessive or prolonged bleeding)
• exocrine pancreatic dysfunction
  • diarrhea, abdominal pain
  • diabetes mellitus (endocrine dysfunction)
• liver, kidneys, heart, eyes, ears, &/or brain anomalies

Laboratory

• complete blood count: pancytopenia
• genetic testing
• urinalysis: evidence of metabolic acidosis

Diagnostic procedures

• bone marrow biopsy

Complications

• death during infancy common
• survivors into childhood may develop Kearns-Sayre syndrome

Management

• blood transfusions
• pancreatic enzyme replacement therapy
• treatment of infections

More general terms

• mitochondrial disease
• genetic syndrome (multisystem disorder)