Abstract
Pearson Syndrome (PS) is a congenital multisystem disorder caused by mitochondrial DNA deletions. The main clinical manifestations are: Sideroblastic anemia, neutropenia, thrombocytopenia and exocrine pancreatic insufficiency. Organs such as the heart, kidneys, eyes, ears and brain are the most affected due to the greater energy demand they need. Diagnosis is often challenging due to phenotypic heterogeneity and should always be suspected in multisystemic manifestations. It is confirmed by genetic testing, through mitochondrial DNA sequencing. It is a disease that has no cure, however, there is treatment with co-factors that reduce the signs and symptoms, in addition to ongoing research in gene therapy. Supportive measures aim to avoid physiological stressors. It is a syndrome that is usually fatal in childhood, and those who survive develop signs and symptoms of Kearns-Sayre Syndrome. This case report aims to guide and favor the diagnosis of similar clinical conditions, since PS is probably underdiagnosed, as few physicians are aware of the existence of the disease, much less of its signs and symptoms.