Pearson marrow pancreas syndrome is a rare disorder which is characterized by dysfunction of bone marrow and pancreas. This leads to anemia, low platelet count, diabetes and failure to thrive. This syndrome was first described by a hematologist named Howard Pearson in 1979, hence the name. Signs and symptoms of this disease begin during infancy and childhood.
The exact cause of Pearson marrow pancreas syndrome is not known, but it is believed to be due to mutation in the genes during the fetal development that causes defect in the DNA of the mitochondria.It is not an inherited disease. Nearly half of the infants suffering from this condition die during infancy or childhood period. Children who survive develop weakness of eye muscles that leads to drooping of eyelids, conduction defect of heart, etc during their adulthood.
What Is The Cause Of Pearson Syndrome?
Pearson marrow pancreas syndrome is considered to be a mitochondrial disease. It is a rare disease in the world as less than hundred infants and children are affected with this disease. The exact cause of Pearson syndrome is not known but the defect is found in DNA of mitochondria of the cell.
It is caused due to mutation in the genes during the development of the child in the womb. This mutation of genes is random and there is no hereditary involvement. Genetic aberration causes dysfunction of the mitochondria, the basic structure in the cell that produces energy for the cell. This disorder equally affects males as well as females.
Symptoms Of Pearson Syndrome
Most infants start showing symptoms at birth and months later. The child has anemia since birth together with metabolic imbalance. The symptoms may depend on the type of blood cell that is affected. If the red blood cell is affected the child may present with pale skin, severe fatigue, difficulty in breathing, headache. When the patient has low white cell count, he may suffer from frequent infections. Platelet deficiency will lead to easy bruising, bleeding from gums, sudden nose bleeding, pain in abdomen etc.
Patient suffering from Pearson syndrome also has pancreatic scarring and dysfunction. Thus patient will present with indigestion, weight loss, nausea and vomiting, raised level of sugar in blood.
The child may also have symptoms of malabsorption as the intestine is not able to absorb nutrients in sufficient amount due to pancreatic fibrosis. The patient may experience abdominal bloating, chronic diarrhea, weight loss, fatty stools. Due to malabsorption, children fail to thrive.
Most children suffering from Pearson marrow-pancreas syndrome do not survive more than first few years of life. Those who survive and grow adult may develop muscle weakness and paralysis. They may suffer from drooping of eyelids, difficulty in movement of eyes, etc.
Treatment Of Pearson Marrow Pancreas Syndrome
Treatment of Pearson marrow-pancreas syndrome is based on signs and symptoms besides the health of the patient. Initially management is to bring about symptomatic improvement in the patient. This may include transfusion of blood, use of antibiotics for treating infection, providing intravenous fluids and electrolytes to suffice the nutrition and electrolyte deficiency. Medications are also prescribed to raise iron and vitamin level in the patient.
The infant or a child detected with this disorder may need long term treatment in the form of allogenic bone marrow transplant. The other option is peripheral stem cell transplant. In some cases hematopoietic growth factor is used such as erythropoietin to stimulate formation of red blood cells.
Although with modern day therapy, at least half of the children die during their infancy due to metabolic acidosis or liver and kidney failure.