Naveh Y, Hazani A, Berant M
Pediatrics. 1981 Sep;68(3):397-400.
A 6-month-old full-term infant had severe anemia and neutropenia. The patient was being fed cow's milk and a diet of corn flour. Thorough investigation revealed low serum iron concentration, severe hypocupremia, low ceruloplasmin, retardation of bone age, and metaphysial irregularities and spurring. Bone marrow aspirate revealed cytoplasmic vacuolization in precursors of the erythroid and myeloid series and ringed sideroblasts. Therapy with oral iron, folic acid, and vitamin C was futile. Administration of copper sulfate resulted in brisk increase in neutrophils and reticulocytes. The child maintained normal levels of hemoglobin, neutrophils, serum copper and ceruloplasmin, and serum iron one year after copper therapy was discontinued. The probable role of unrecognized copper deficiency in causing anemia in infants more than 6 months of age is discussed, and the importance of serum copper examination in refractory iron deficiency anemia and neutropenia is stressed. To the best of our knowledge, no such case has previously been described in the literature.
一名6个月大的足月婴儿患有严重贫血和中性粒细胞减少症。该患者一直以牛奶和玉米粉为食。全面检查发现血清铁浓度低、严重低铜血症、铜蓝蛋白低、骨龄延迟以及干骺端不规则和骨刺形成。骨髓穿刺显示红系和髓系前体细胞出现细胞质空泡化以及环形铁粒幼细胞。口服铁剂、叶酸和维生素C治疗无效。给予硫酸铜后，中性粒细胞和网织红细胞迅速增加。停用铜治疗一年后，患儿的血红蛋白、中性粒细胞、血清铜和铜蓝蛋白以及血清铁维持在正常水平。讨论了未被认识的铜缺乏在6个月以上婴儿贫血病因中的可能作用，并强调了血清铜检查在难治性缺铁性贫血和中性粒细胞减少症中的重要性。据我们所知，此前文献中未曾描述过此类病例。
