Pearson Syndrome Essay

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Title: Case 2 – Pearson Syndrome A 34-year-old woman and her 1-month-old newborn were seen by a genetic counselor in the neonatal intensive care unit in a major medical center. The neonatologist was suspicious that the newborn boy had a genetic condition and requested a genetic evaluation. The newborn was very pale, was failing to thrive, had diarrhea, and had markedly increased serum cerebrospinal fluid lactate levels. In addition, he had severe muscle weakness with chart notes describing him as “floppy,” and he had already had two seizures since birth. The neonatologist reported that the infant was currently suffering from liver failure, which would probably result in his death in the next few days. The panel of tests performed on the infant led the neonatologist and genetic counselor to the diagnosis of Pearson syndrome. Explain. The combination of marked metabolic acidosis and abnormalities in bone marrow cells is highly suggestive of Pearson syndrome. Pearson syndrome is associated with a large deletion of the mitochondrial (mt) genome. The way the deletion containing mtDNA molecules are distributed during mitosis is not known. However, it is assumed that during cell division daughter cells randomly receive mitochondria carrying wild type (WT) or mutant mtDNA. Mitochondrial DNA is, theoretically, transmitted only to offspring through the mother via the large cytoplasmic component of the oocyte. Nearly all cases of Pearson syndrome arise from new mutational events. Mitochondria have extremely poor DNA repair mechanisms, and mutations accumulate very rapidly. Most infants with Pearson syndrome die before age 3, often due to infection or liver

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