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Abstract：
Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia is often observed within several years of diagnosis. We present the case of a 4-month-old male diagnosed with PS who experienced prolonged severe pancytopenia preceding the emergence of monosomy 7. Whole-exome sequencing identified two somatic mutations, including RUNX1 p.S100F that was previously reported as associated with myeloid malignancies. The molecular defects associated with PS may have the potential to progress to advanced myelodysplastic syndrome .
摘要：
皮尔逊综合征（PS）是一种非常罕见且通常致命的多系统疾病，由线粒体DNA缺失导致铁粒幼细胞性贫血，骨髓前体的空泡化，和胰腺功能障碍。通常在诊断后的几年内观察到贫血的自发恢复。我们介绍了一名被诊断为PS的4个月大男性的病例，该男性在出现7型单体之前经历了长期的严重全血细胞减少症。全外显子组测序确定了两个体细胞突变，包括以前报道的与骨髓恶性肿瘤相关的RUNX1p.S100F。与PS相关的分子缺陷可能有进展为晚期骨髓增生异常综合征的潜力。
