A child with vitamin B12 deficiency presenting with pancytopenia and hyperpigmentation.
A child with vitamin B12 deficiency presenting with pancytopenia and hyperpigmentation.
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一名患有维生素 B12 缺乏症的儿童，表现为全血细胞减少症和色素沉着过度。
DOI：
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发表时间：
2004
期刊：
影响因子：
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通讯作者：
M. Çetin
中科院分区：
文献类型：
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作者：
O. Simşek;Nazlı Gönç;F. Gümrük;M. Çetin
作者描述了一个16个月大的婴儿，表现为神经发育退化，严重的全血细胞减少症，过度的皮肤色素沉着，以及营养维生素B12缺乏引起的震颤。她一直是纯母乳喂养，拒绝吃任何其他食物。实验室研究显示严重的全血细胞减少症，血清B12水平下降，尿甲基丙二酸水平升高。骨髓抽吸与巨幼细胞改变一致。希林试验正常。母亲的血清B12水平也很低。诊断为由于B12摄入不足引起的巨幼细胞性贫血。开始静脉注射B12治疗。神经系统的症状没有完全消失，但全血细胞减少症、震颤和四肢色素沉着症完全恢复。
The authors describe a 16-month-old infant presenting with neurologic developmental regression, severe pancytopenia, excessive skin pigmentation, and tremor resulting from nutritional vitamin B12 deficiency. She had been exclusively breast-fed and had refused to take any other food. Laboratory studies showed severe pancytopenia, a decrease in serum B12 levels, and an increase in urinary methylmalonic acid levels. Bone marrow aspiration was compatible with megaloblastic changes. Schilling test was normal. The serum B12 level of the mother was also low. Megaloblastic anemia resulting from inadequate B12 intake was diagnosed. Parenteral B12 therapy was initiated. The neurologic picture did not completely resolve, but pancytopenia, tremor, and hyperpigmentation of the extremities recovered completely.