Pearson syndrome
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Synopsis
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.
Codes
ICD10CM:E88.49 – Other mitochondrial metabolism disorders
SNOMEDCT:
237985009 – Pearson's syndrome
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Diagnostic Pearls
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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
- Neutropenia
- Myelodysplastic syndrome
- Thrombocytopenia-absent radius (TAR) syndrome
- Congenital amegakaryocytic thrombocytopenia
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Therapy
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References
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Last Reviewed:01/06/2018
Last Updated:06/27/2022
Last Updated:06/27/2022