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Pearson's syndrome
Last reviewed: 23.04.2024
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Causes of the pearson syndrome
It is based on large deletions in mitochondrial DNA, but they are localized mainly in the mitochondria of bone marrow cells.
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Symptoms of the pearson syndrome
The disease debuts in the first days and months of the child's life. In this case, severe malignant sideroblastic anemia develops, sometimes pancytopenia (suppression of all bone marrow germs) and insulin-dependent diabetes mellitus, which is associated with pancreatic fibrosis. The child languid, sleepy, pale. Characterized by diarrhea, poor weight gain.
What tests are needed?
Forecast
Most patients die in the first 2 years of life. However, in those individuals who survived due to frequent and intensive blood transfusions, a clinical picture resembling Cairns-Seir syndrome develops after several years. This occurs as a result of an increase in the content of mutant DNA in the muscle and nerve cells of the patient.