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Pearson syndrome
Last reviewed: 04.07.2025
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Causes Pearson syndrome
It is based on large deletions in mitochondrial DNA, but they are localized predominantly in the mitochondria of bone marrow cells.
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Symptoms Pearson syndrome
The disease debuts in the first days and months of a child's life. In this case, severe malignant sideroblastic anemia develops, sometimes pancytopenia (suppression of all bone marrow sprouts) and insulin-dependent diabetes mellitus, which is associated with pancreatic fibrosis. The child is lethargic, sleepy, pale. Diarrhea and poor weight gain are characteristic.
What tests are needed?
Forecast
Most patients die within the first 2 years of life. However, those who survive due to frequent and intensive blood transfusions develop a clinical picture resembling Kearns-Sayre syndrome after several years. This occurs as a result of an increase in the content of mutant DNA in the patient's muscle and nerve cells.
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