A Case Report of Pearson Syndrome: Addressing the Complexities beyond Anemia.
- 1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
- 2Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Abstract
Introduction
Pearson syndrome (PS) is a mitochondrial deletion disorder typically presenting as transfusion-dependent sideroblastic anemia with varying involvement of different cell lines, along with multisystem involvement during infancy. This fatal condition requires a high degree of clinical suspicion due to its phenotypic heterogeneity.Case presentation
We present the case of an 8-month-old infant with sideroblastic anemia and thrombocytopenia, initially showing a negative whole exome sequencing (WES) result from peripheral blood. Bone marrow reexamination revealed additional findings, including vacuolization of erythroid and myeloid precursors. With clinical suspicion of PS, analysis of the mitochondrial genome in WES data identified a novel 4.9-kb mitochondrial DNA deletion (m.8482_13477del4996) covering the COX3, ND3, ND4, ND5, ATP6, and ATP8 genes, with subsequent multisystem involvement confirming the diagnosis.Conclusion
This case underscores the importance of integrating laboratory findings with genetic testing, as focused analysis of the mitochondrial genome in cases of sideroblastic anemia in bone marrow can give a definitive diagnosis of PS.
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BibTeX
@article{das2026case,
title = {{A Case Report of Pearson Syndrome: Addressing the Complexities beyond Anemia.}},
author = {Niladri Das and Haseena Sait and Anshima Singh and Rajesh Kumar Maurya and Vishakha Gupta and Kausik Mandal},
journal = {Molecular syndromology},
year = {2026},
month = sep,
doi = {10.1159/msy/adrag020},
url = {https://europepmc.org/article/MED/42924095},
note = {CC BY},
}
RIS
TY - JOUR
TI - A Case Report of Pearson Syndrome: Addressing the Complexities beyond Anemia.
AU - Niladri Das
AU - Haseena Sait
AU - Anshima Singh
AU - Rajesh Kumar Maurya
AU - Vishakha Gupta
AU - Kausik Mandal
PY - 2026
DA - 2026/09/24
JO - Molecular syndromology
DO - 10.1159/msy/adrag020
UR - https://europepmc.org/article/MED/42924095
AB - Introduction Pearson syndrome (PS) is a mitochondrial deletion disorder typically presenting as transfusion-dependent sideroblastic anemia with varying involvement of different cell lines, along with multisystem involvement during infancy. This fatal condition requires a high degree of clinical suspicion due to its phenotypic heterogeneity.Case presentation We present the case of an 8-month-old infant with sideroblastic anemia and thrombocytopenia, initially showing a negative whole exome sequencing (WES) result from peripheral blood. Bone marrow reexamination revealed additional findings, including vacuolization of erythroid and myeloid precursors. With clinical suspicion of PS, analysis of the mitochondrial genome in WES data identified a novel 4.9-kb mitochondrial DNA deletion (m.8482_13477del4996) covering the COX3, ND3, ND4, ND5, ATP6, and ATP8 genes, with subsequent multisystem involvement confirming the diagnosis.Conclusion This case underscores the importance of integrating laboratory findings with genetic testing, as focused analysis of the mitochondrial genome in cases of sideroblastic anemia in bone marrow can give a definitive diagnosis of PS.
SN - 1661-8769
SN - 1661-8777
ER -