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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
Special laboratory:
- 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
General
mitochondrial disease
genetic syndrome (multisystem disorder)
References
- Pearson syndrome
Genetic & Rare Diseases Information Center (GARD)
https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome