USF-LVHN SELECT
A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis.
Publication/Presentation Date
1-1-2023
Abstract
Pearson marrow-pancreas syndrome is a rare multisystem mitochondrial disease that is a result of defective oxidative phosphorylation caused by mitochondrial DNA mutations. The average prognosis of infants diagnosed with this disease is death within four years of age. The disease often carries an atypical presentation during the neonatal period causing this rare syndrome to be frequently misdiagnosed. The current report details the diagnosis of Pearson syndrome in a three-month-old male with a history of pancytopenia.
Volume
15
Issue
1
First Page
33963
Last Page
33963
ISSN
2168-8184
Published In/Presented At
Shoeleh, C., Donato, U. M., Galligan, A., & Vitko, J. (2023). A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis. Cureus, 15(1), e33963. https://doi.org/10.7759/cureus.33963
Disciplines
Medical Education | Medicine and Health Sciences
PubMedID
36820126
Department(s)
USF-LVHN SELECT Program, USF-LVHN SELECT Program Students
Document Type
Article