PEARSON SYNDROME

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: A confirmed diagnosis is documented by molecular genetic analysis showing deletions in mitochondrial DNA. Other lab studies include:

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  Bone marrow analysis;

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  Complete blood cell and reticulocyte counts; and

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  Metabolic studies including electrolytes, lactic acid, bilirubin, and albumin.

Physical findings:

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  Poor growth/failure to thrive;

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  Hepatosplenomegaly (enlarged liver and spleen); and

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  Pallor (pale skin).

ICD-9: 277.87

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:

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  Clinical history and examination that describes the diagnostic features of the impairment; and

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  Results of molecular genetic analysis showing deletions in mitochondrial DNA.

Suggested Listings for Evaluation:

REMARKS