Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria
Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria
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DOI：
10.1093/omcr/omy096
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发表时间：
2018-12-01
影响因子：
0.5
通讯作者：
Aziz, Ghasan
中科院分区：
文献类型：
--
作者：
Aljarad, Sara;Alhamid, Ahmad;Aziz, Ghasan
Bloom综合征是一种罕见的常染色体隐性遗传病，BLM基因发生突变，导致基因组不稳定，易发生恶性转化。它的特点是身材矮小，对日光敏感，皮疹和免疫缺陷。我们报告一例Bloom综合征合并骨髓发育不良合并急性髓系白血病的病例。此病例有新的眼科表现。我们通过检测姐妹染色单体互换的高比率来确认诊断。这名患者接受了化疗，但耐受性不佳，并患上了真菌性肺炎。
Bloom syndrome is a rare autosomal recessive disease, in which BLM gene is mutated, leading to genome instability and proneness to malignancy. It is characterized by short stature, sun-sensitive rash and immunodeficiency. We present a case of bloom syndrome with myelodysplasia complicated by acute myeloid leukaemia. This case has new ophthalmologic manifestations. We confirmed the diagnosis by detection of high rate of sister chromatid exchange. The patient received chemotherapy but did not tolerate it well and developed fungal pneumonia.