TN 7 (08-12)
DI 23022.855 Pearson Syndrome
COMPASSIONATE ALLOWANCE INFORMATION
Pearson Marrow Pancreas Syndrome; Sideroblastic Anemia with Marrow Cell Vacuolization and Exocrine Pancreatic Dysfunction; Pearson Anemia
Pearson Syndrome is a type of rare inherited multisystem disorder caused by mitochondrial mutations, leading to progressive bone marrow failure and pancreas dysfunction. This results in severe anemia, variable low platelet and neutrophil counts, pancreatic insufficiency, and poor growth. Associated features may include insulin-dependent diabetes, muscle and neurological involvement, and liver and kidney dysfunction. The diagnosis of Pearson syndrome is usually made in the first year of life.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Diagnostic testing: A confirmed diagnosis is documented by molecular genetic analysis showing deletions in mitochondrial DNA. Other lab studies include: bone marrow analysis; complete blood cell and reticulocyte counts; metabolic studies including electrolytes, lactic acid, bilirubin, and albumin.
Physical findings: Poor growth/failure to thrive, hepatosplenomegaly (enlarged liver and spleen), and pallor
ONSET AND PROGRESSION
Most children with Pearson syndrome die in infancy or early childhood due to bacterial sepsis resulting from neutropenia, metabolic crisis, or hepatic failure. The few persons surviving into adulthood often develop Kearns-Sayre syndrome, a rare neuromuscular disorder.
There is no specific treatment for Pearson syndrome. Treatment is supportive and symptomatic. Chronic red blood transfusions are required to treat anemia. Neutropenia may be treated with colony stimulating factor. Pancreatic enzyme replacement treats malabsorption due to exocrine pancreatic insufficiency.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for evaluation:
Suggested Listings for Evaluation:
* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.