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首页> 外文期刊>Revista Cubana de Hematología, Inmunología y Hemoterapia >Trastornos neurol?3gicos graves en lactante con anemia megalobl??stica
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Trastornos neurol?3gicos graves en lactante con anemia megalobl??stica

机译：巨幼细胞性贫血婴儿的严重神经系统疾病

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Megaloblastic anemia is a madurative disorder of erythroid and myeloid precursors caused by deficiency of vitamin B12 and/or folic acid. It is rare in childhood and its prevalence is unknown because it is a rare disease.We report the case of a 14 month old infant with a normal psychomotor development (DPM) until 7 months after which began to lose the gained skills and had severe neurological disorders to such a degree of being studied by neurology by a progressive central nervous system disease. At physical examination pale skin and mucous membranes, loss of bilateral cocleopalpebral reflexes, no visual reflection of the 4 limbs hypertonia, hyperreflexia were found. Laboratory tests were performed reporting hemoglobin of 76 g/L, genetic tests to search for inborn errors of metabolism,mitochondrial diseases and other diseases as Tay Sachs, Gangliosidosis type 1, metachromatic leukodystrophy, all were negative. The dosage of vitamin B12 was 91 pg/mL, and megaloblastic anemia was diagnosed. At the beginning of the treatment with vitamin B12 there was a rapid clinical recovery, the severe neurological disorders were completely reversing. Vitamin B12 deficiency should be suspected in infants with anemia and neurological disorders especially if the mother?′s feeding before and during pregnancy and lactation is not adequate.
机译：巨幼细胞性贫血是维生素B12和/或叶酸缺乏引起的类红细胞和髓样前体的异常性疾病。它在儿童时期很少见，并且由于它是一种罕见疾病而不为人所知。我们报告了一个14个月大的婴儿，其精神运动发育（DPM）正常，直到7个月后开始失去所获得的技能并患有严重的神经系统疾病神经疾病由进行性中枢神经系统疾病研究到的程度。体检时皮肤和粘膜苍白，双侧巩膜纤维化反射消失，未见四肢高渗，反射亢进的视觉反射。进行了实验室检查，报告血红蛋白为76 g / L，进行了基因检查，以寻找先天性代谢错误，线粒体疾病和其他疾病，如Tay Sachs，神经节病1型，变色性白细胞营养不良，均为阴性。维生素B12的剂量为91 pg / mL，并已诊断出巨幼细胞性贫血。在开始使用维生素B12进行治疗时，临床恢复迅速，严重的神经系统疾病已完全逆转。贫血和神经系统疾病的婴儿应怀疑维生素B12缺乏，特别是如果母亲在怀孕之前和期间的喂养以及泌乳不足。

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