Bader-Meunier B, Rötig A, Mielot F, Lavergne J M, Croisille L, Rustin P, Landrieu P, Dommergues J P, Munnich A, Tchernia G
Département de Pédiatrie, Hôpital Bicêtre, Le Kremlin Bicêtre, France.
Br J Haematol. 1994 Jun;87(2):381-5. doi: 10.1111/j.1365-2141.1994.tb04926.x.
We report two cases of childhood myelodysplasia (MDS) related to a mitochondrial (mt) cytopathy that illustrate the difficulty in recognizing such disorders in patients with solely haematological signs. Both patients have refractory anaemia with ring sideroblasts and vacuolization of haemopoietic precursors. These cytological features are similar to those observed in Pearson's disease, recently identified as a mitochondrial disease, and are strongly suggestive of a mitochondrial enzyme defect. The diagnosis of mitochondrial cytopathy was established on Southern blotting of mt DNA, showing a mt DNA deletion, or on the impairment of the respiratory chain enzyme activities. The absence of cytogenic abnormalities, and the polyclonal pattern of peripheral neutrophil and lymphocyte fractions, suggest that, in mt cytopathies, MDS cannot be considered as a truly malignant disorder.
我们报告了两例与线粒体细胞病相关的儿童骨髓增生异常综合征（MDS），这两例病例说明了在仅有血液学体征的患者中识别此类疾病的困难。两名患者均患有伴有环形铁粒幼细胞的难治性贫血以及造血前体细胞空泡化。这些细胞学特征与最近被确定为线粒体疾病的Pearson病中观察到的特征相似，强烈提示线粒体酶缺陷。线粒体细胞病的诊断是通过对线粒体DNA进行Southern印迹分析显示线粒体DNA缺失，或通过呼吸链酶活性受损来确定的。无细胞遗传学异常以及外周血中性粒细胞和淋巴细胞亚群的多克隆模式表明，在线粒体细胞病中，MDS不能被视为真正的恶性疾病。
