Approximately one-half of patients will die in infancy or early childhood due to liver failure or severe lactic acidosis complications. Patients who survive into adulthood usually develop Kearns-Sayre syndrome.
Pearson syndrome is caused by single, large deletions in mitochondrial DNA.
There is no specific treatment. Early diagnosis and close monitoring to prevent possible complications are recommended.
E88.49 – Other mitochondrial metabolism disorders
237985009 – Pearson's syndrome
Differential Diagnosis & Pitfalls
- Diamond-Blackfan anemia
- Shwachman-Diamond syndrome
- Fanconi anemia
- MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)
- Bone marrow failure
- Kearns-Sayre syndrome
- Myelodysplastic syndrome
- Thrombocytopenia-absent radius (TAR) syndrome
- Congenital amegakaryocytic thrombocytopenia