Juvenile cobalamin deficiency in a 17-year-old child with autonomic dysfunction and skin changes.
Juvenile cobalamin deficiency in a 17-year-old child with autonomic dysfunction and skin changes.
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DOI：
10.1097/mph.0b013e3182288249
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发表时间：
2012-03
期刊：
影响因子：
--
通讯作者：
Sarnaik SA
中科院分区：
文献类型：
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作者：
Siddiqui AH;Ansari A;Beech CM;Shah NP;Tanner SM;Sarnaik SA
我们报告一个罕见的情况下，少年钴胺素缺乏症谁提出了在17岁。他体重不足，出现皮肤变化、正常细胞性贫血和自主神经功能障碍，导致动力性肠梗阻和急性肾后衰竭。预期的大红细胞症被潜在的α地中海贫血特征所掩盖。该患者对非肠道钴胺素治疗反应良好。
We report a rare case of juvenile cobalamin deficiency who presented at the age of seventeen years. He was underweight and had skin changes, normocytic anemia and autonomic dysfunction which lead to adynamic ileus and acute post-renal failure. The expected macrocytosis was masked by an underlying alpha thalassemia trait. The patient had an excellent response to parenteral cobalamin treatment.