[Pearson syndrome. Case report].

Abstract

Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.

• Authors: Francisco Cammarata-Scalisi, Ester López-Gallardo, Sonia Emperador, Eduardo Ruiz-Pesini, Gloria Da Silva, Nolis Camacho, Julio Montoya
• Journal: Investigacion clinica (Invest Clin) Vol. 52 Issue 3 Pg. 261-7 (Sep 2011) ISSN: 0535-5133 [Print] Venezuela
• Vernacular Title: Síndrome de Pearson. Reporte de un caso.
• PMID: 21950197 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• Acyl-CoA Dehydrogenase, Long-Chain

Topics

• Acyl-CoA Dehydrogenase, Long-Chain (deficiency)
• Anemia, Sideroblastic (blood, diagnosis, genetics)
• Congenital Bone Marrow Failure Syndromes
• DNA, Mitochondrial (genetics)
• Diarrhea, Infantile (etiology)
• Exocrine Pancreatic Insufficiency (etiology, genetics)
• Fatal Outcome
• Female
• Humans
• Hypokalemia (etiology)
• Infant
• Lipid Metabolism, Inborn Errors
• Mitochondrial Diseases (blood, diagnosis, genetics)
• Muscular Diseases
• Phenotype
• Referral and Consultation
• Sequence Analysis, DNA
• Sequence Deletion