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

Celeste Shoeleh; Umberto M Donato; Andrew Galligan; Julie Vitko

doi:10.7759/cureus.33963

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

Cureus. 2023 Jan 19;15(1):e33963. doi: 10.7759/cureus.33963. eCollection 2023 Jan.

Authors

Celeste Shoeleh¹, Umberto M Donato^{2

3

4

1}, Andrew Galligan^{5

1}, Julie Vitko⁶

Affiliations

¹ Pediatric Hematology Oncology, University of South Florida Morsani College of Medicine, Tampa, USA.
² Health Outcomes and Behavior Lab, Moffitt Cancer Center, Tampa, USA.
³ Pediatric Oncology, Tampa General Hospital, Tampa, USA.
⁴ Radiology, Moffitt Cancer Center, Tampa, USA.
⁵ Pediatric Oncology, Moffitt Cancer Center, Tampa, USA.
⁶ Pathology and Cell Biology, University of South Florida Morsani College of Medicine, Tampa, USA.

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.

Keywords: anemia; genetic screening; mitochondrial disorders; sideroblastic anemia; “pancytopenia”.

Publication types

Case Reports