Akyay Arzu, Olcay Lale, Kuzu Işınsu, Bozdoğan Nazan, Ünal-İnce Elif, İleri Talia, Tükün Ajlan, Yürür-Kutlay Nuket
Division of Pediatric Hematology, Dr Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Ankara, Turkey.
J Pediatr Hematol Oncol. 2010 Nov;32(8):617-20. doi: 10.1097/MPH.0b013e3181e6262c.
A 9-year-old girl with intractable anemia, rare mucocutaneous bleeding, and pallor was presented. Hemoglobin was 49 g/L; reticulocyte 0.79%, mean corpuscular volume 81 fL, platelet 37×10⁹/L; white blood cell count 3.2×10⁹/L with dysmorphic cells in peripheric blood. Further evaluation revealed 10% cellularity with grade IV reticulin fibrosis, immature, and/or dysplastic hematopoietic cells without sideroblasts, or blast increase in biopsy, Monosomy 8 was found in bone marrow aspiration material using FISH. Vitamin B12, folic acid, hemoglobin electrophoresis, immunoglobulin levels, CD55, CD59, complement 3, 4, abdominal ultrasonography, chest x-ray were normal; diepoxybutane, acid ham, sucrose lysis tests, viral serologies, antinuclear antibody, anti DNA were negative. On diagnosis of "Myelodysplastic Syndrome-refractory cytopenia with hypocellular fibrosis," she received a successful allogeneic BM transplantation from her full matched sibling.
一名9岁女孩，患有难治性贫血、罕见的皮肤黏膜出血和面色苍白。血红蛋白为49g/L；网织红细胞0.79%，平均红细胞体积81fL，血小板37×10⁹/L；白细胞计数3.2×10⁹/L，外周血中有异形细胞。进一步评估显示骨髓细胞含量为10%，伴有IV级网硬蛋白纤维化，造血细胞不成熟和/或发育异常，无铁粒幼细胞，活检中无原始细胞增多，荧光原位杂交（FISH）检测发现骨髓穿刺材料中有8号染色体单体。维生素B12、叶酸、血红蛋白电泳、免疫球蛋白水平、CD55、CD59、补体3、4、腹部超声、胸部X线检查均正常；二环氧丁烷、酸化血清溶血试验、蔗糖溶血试验、病毒血清学、抗核抗体、抗DNA均为阴性。诊断为“骨髓增生异常综合征-低细胞性纤维化难治性血细胞减少症”后，她接受了来自完全匹配同胞的成功异基因骨髓移植。
