A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis

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 aty...

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Detalles Bibliográficos
Autores principales: Shoeleh, Celeste, Donato, Umberto M, Galligan, Andrew, Vitko, Julie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938677/
https://www.ncbi.nlm.nih.gov/pubmed/36820126
http://dx.doi.org/10.7759/cureus.33963
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author Shoeleh, Celeste
Donato, Umberto M
Galligan, Andrew
Vitko, Julie
author_facet Shoeleh, Celeste
Donato, Umberto M
Galligan, Andrew
Vitko, Julie
author_sort Shoeleh, Celeste
collection PubMed
description 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.
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spelling pubmed-99386772023-02-19 A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis Shoeleh, Celeste Donato, Umberto M Galligan, Andrew Vitko, Julie Cureus Pediatrics 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. Cureus 2023-01-19 /pmc/articles/PMC9938677/ /pubmed/36820126 http://dx.doi.org/10.7759/cureus.33963 Text en Copyright © 2023, Shoeleh et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pediatrics
Shoeleh, Celeste
Donato, Umberto M
Galligan, Andrew
Vitko, Julie
A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis
title A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis
title_full A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis
title_fullStr A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis
title_full_unstemmed A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis
title_short A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis
title_sort case report on pearson syndrome with emphasis on genetic screening in patients presenting with sideroblastic anemia and lactic acidosis
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938677/
https://www.ncbi.nlm.nih.gov/pubmed/36820126
http://dx.doi.org/10.7759/cureus.33963
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