Individuals diagnosed with Pearson Syndrome are not able to absorb food correctly and they also have low white blood cell counts, which is called neutropenia. They can also encounter low red cell counts, which lead to anemia, which can be a serious health problem.
The symptoms usually first appear during infancy. Typically the diagnosis is made between birth and age 7 with typical diagnosis being made within that first year of life.
Inherited Bone Marrow Failure
This syndrome falls into the category of blood disorders because the bone marrow fails to perform as normally expected in order to support the blood needs of the individual. The white blood cells (neutrophils) are not manufactured by the bone marrow and if they are present they are in lower than normal cell counts.
Low red blood cells are often common, leading to anemia, and individuals with Pearson’s Syndrome usually develop aplastic anemia due to low platelet count and a general lack of all three cells types (red and white cells and platelets).
Individuals with Pearson Syndrome may be at an increased risk for leukemia although it is generally not reported in medical literature that those with Pearson Syndrome are developing cancers at a faster rate than the normal population with the exception of leukemia.
Individuals are usually diagnosed based on physical examination where a short stature is determined to be the case and they also have blood counts that are in the low range for all three of the cell types. Under microscopic examination the cells of the bone marrow are seen to have vacuoles (holes) and to be immature for the red blood cells with excessive iron deposits called “ring sideroblasts”. A Mutation analysis, which is part of genetic testing, will reveal that there is a mutation or deletion of the DNA from mitochondria.
Unfortunately, Pearson Syndrome is very rare (only 60 cases reported worldwide) and it is usually fatal in infancy or early childhood. This is a progressive blood disorder. Infants may show signs of skin pallor and have low birth weight. They may show signs of anemia and require a blood transfusion if the anemia is severe.
Failure to thrive is a common first diagnosis with chronic diarrhea occurring. Frequent crisis episodes of vomiting, diarrhea and electrolyte abnormalities being noted along with lactic acidosis, and hepatic insufficiency. Liver failure and sepsis is often the cause of death during infancy or early childhood.
There may be a family history of some anemias or other bone marrow syndromes or failures with perhaps a X-linked sideroblastic anemia or Diamond-Blackfan anemia in the family ancestry. There is evidence that Pearson Syndrome can be inherited on the maternal side of the family it has also been known to show up sporadically.