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Pearson syndrome.

Piero Farruggia1, Floriana Di Marco1, Carlo Dufour2

  • 1a Pediatric Hematology and Oncology Unit, Oncology Department , A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli , Palermo , Italy.

Expert Review of Hematology
|January 17, 2018
PubMed
Summary

Pearson syndrome (PS) is a rare mitochondrial disease linked to mitochondrial DNA deletions, causing severe anemia in infants. While incurable, supportive care can improve patient quality and duration of life.

Keywords:
Pearson syndromeanemiachildhoodmitochondriamitochondriopathies

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Area of Science:

  • Mitochondrial genetics
  • Pediatric hematology
  • Rare disease research

Background:

  • Pearson syndrome (PS) is a rare, sporadic mitochondrial disorder.
  • Characterized by mitochondrial DNA deletions and refractory sideroblastic anemia in infancy.
  • Affects multiple organs and systems with a variable clinical presentation.

Purpose of the Study:

  • To analyze and interpret existing data on Pearson syndrome.
  • To enhance the understanding of PS pathophysiology and clinical course.
  • To provide expert commentary on current knowledge and management.

Main Methods:

  • Comprehensive literature search of PubMed, Google Scholar, and Thompson ISI Web of Knowledge.
  • Analysis and interpretation of published data on Pearson syndrome.
  • Expert review and synthesis of findings.

Main Results:

  • Pearson syndrome involves unique mitochondrial DNA deletions.
  • Clinical phenotypes are highly variable and can fluctuate over time.
  • The disease has a lethal outcome, with no definitive cure currently available.

Conclusions:

  • Pearson syndrome is a severe mitochondrial disorder with a variable course.
  • Management requires specialized care in centers experienced with mitochondrial diseases and bone marrow failure.
  • Supportive treatment and follow-up can positively impact quality and length of life.