Related Experiment Video
Updated: May 29, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
[Pearson syndrome. Case report]
Francisco Cammarata-Scalisi1, Ester López-Gallardo, Sonia Emperador
1Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela. francocammarata19@gmail.com
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.
Related Concept Videos
Sex-linked Disorders
Pleiotropy
X-linked Traits
Multiple Allele Traits
Polygenic Traits
Chromosomal Theory of Inheritance