A type of mitochondrial myopathy characterized by refractory sideroblastic anemia, liver disease, and exocrine pancreas deficiency
Pearson syndrome is a form of mitochondrial myopathy. A mitochondrial myopathy is a type of myopathy associated with mitochondrial dysfunction. One of the major distinctions of this condition is the inability of the muscle to perform properly. In mitochondrial myopathies, the underlying cause is a dysfunctional mitochondrion due to a pathological mutation in the mitochondrial DNA. In Pearson syndrome, the underlying cause is deletion in the mitochondrial DNA. The deletions may vary in size and location. The condition is characterized mainly by refractory sideroblastic anemia and exocrine pancrease deficiency. The symptoms manifest at infancy. The infant with Pearson syndrome would have a bone marrow that does not produce neutrophils and would have low platelet count. The exocrine pancreas is also affected. It fails to function due to atrophy and scarring. As a result, the infant with Pearson syndrome tends to have stunted growth and the inability to gain weight.
Pearson syndrome is inherited in a mitochondrial pattern. This means that the individual with this condition inherited the disorder from their carrier mother. This form of inheritance is referred to as maternal inheritance. This is because the egg cell is the source of the mitochondrial DNA.
The name is derived from Howard Pearson, the pediatric hematologist, who first described the condition in 1979.
- sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction