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. Eur J Pediatr 2009; 168:311-315.
Two new cases with Pearson syndrome and review of Hacettepe experience.
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. Eur J Med Genet 2009; 52:23-26.
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. J Inherit Metab Dis 2000; 23:753-754.
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.
Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.
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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