Pearson Syndrome

Clinical Features

Pearson syndrome is another phenotype of mtDNA deletion disorders with onset at early childhood. The clinical symptoms are pancytopenia, dystrophy of the spleen and pancreas fibrosis. Children, who survive the period with pancytopenia, develop a Kearns-Sayre syndrome.

Genetic Information

The underlying genetic defect is a single deletion of the mtDNA. This is the only mitochondrial deletion related disease, where blood DNA is appropriate for genetic analysis.

Prevalence

Not known

Diagnostic

Indication

Pearson syndrome

Method

Southern blot / long-range PCR for mtDNA deletion

Sample Requirement

2 - 4 ml EDTA-blood

Duration

1 - 2 weeks

OMIM

557000 Pearson syndrome

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