Work

A Case Report of Pearson Syndrome: Addressing the Complexities beyond Anemia

Year: 2026

Type: article

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.

Source: Molecular Syndromology

DOI: 10.1159/msy/adrag020

Authors: Niladri Das, Haseena Sait, Anshima Singh, Rajesh Kumar Maurya, Vishakha Gupta, Kausik Mandal

Institution: Sanjay Gandhi Post Graduate Institute of Medical Sciences

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W7220745897