Pearson syndrome


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Pearson syndrome

[MIM #557000] Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction; usually lethal in infancy.

Pearson syndrome

A mitochondrial disease characterized by early onset BM dysfunction leading to pancytopenia & pancreatic failure, which may progress to Kearns-Sayre syndrome. See Mitochondrial disease.

Pearson,

H.A.,
Pearson syndrome - refractory sideroblastic anemia; malabsorption or other pancreatic exocrine insufficiency.
References in periodicals archive ?
Pearson syndrome in the neonatal period: two case reports and review of the literature.
Early neurological impairment and severe anemia in a newborn with Pearson syndrome.
A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate.
Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene.
Two new cases with Pearson syndrome and review of Hacettepe experience.
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochon drial DNA.
Early onset of complete heart block in Pearson syndrome.
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.
Blood spots have also been used for screening patients at risk for mitochondrial disorders such as medium-chain acyl-CoA dehydrogenase deficiency (19,20) and Pearson syndrome, a multisystem juvenile disorder associated with deletions in the mitochondrial genome (21).
Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card.

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