NEUROPSYCHIATRIC DISORDERS CAUSED BY COBALAMIN DEFICIENCY IN THE ABSENCE OF ANEMIA OR MACROCYTOSIS
NEUROPSYCHIATRIC DISORDERS CAUSED BY COBALAMIN DEFICIENCY IN THE ABSENCE OF ANEMIA OR MACROCYTOSIS
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DOI：
10.1056/nejm198806303182604
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发表时间：
1988-06-30
影响因子：
158.5
通讯作者：
ALLEN, RH
中科院分区：
文献类型：
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作者：
LINDENBAUM, J;HEALTON, EB;ALLEN, RH
在连续141例因钴胺素缺乏而出现神经精神异常的患者中，我们发现40例（28%）没有贫血或大红细胞症。34例红细胞压积正常，25例平均细胞体积正常，19例两项试验均正常。这些患者的特征包括感觉异常、感觉丧失、共济失调、痴呆和精神性胃病;长期存在的神经系统症状伴贫血;白细胞和血小板计数、血清胆红素和乳酸脱氢酶水平正常;甲基丙二酸和总同型半胱氨酸血清浓度显著升高。2名患者的血清钴胺素水平高于150 pmol/L（200 pg/ml），16名患者的血清钴胺素水平介于75和150 pmol/L（100和200 pg/ml）之间，只有22名患者的血清钴胺素水平低于75 pmol/L（100 pg/ml）。除了一名患者在治疗的第一周死亡外，该组中的每个患者都受益于钴胺素治疗。反应包括神经精神异常的改善（39/39），一个或多个血液学结果的改善（通常在正常范围内）（36/39），以及血清甲基丙二酸，总同型半胱氨酸或两者水平下降超过50%（31/31）。我们的结论是，由于钴胺素缺乏症的神经精神疾病通常发生在没有贫血或平均细胞体积升高，血清甲基丙二酸和总同型半胱氨酸治疗前后的测量是有用的，在这些患者的诊断。
Among 141 consecutive patients with neuropsychiatric abnormalities due to cobalamin deficiency, we found that 40 (28 percent) had no anemia or macrocytosis. The hematocrit was normal in 34, the mean cell volume was normal in 25, and both tests were normal in 19. Characteristic features in such patients included paresthesia, sensory loss, ataxia, dementia, and psychiastric disorders; longstanding neurologic symptoms with anemia; normal white-cell and platelet counts and serum bilirubin and lactate dehydrogenase levels; and markedly elevated serum concentrations of methylmalonic acid and total homocysteine. Serum cobalamin levels were above 150 pmol per liter (200 pg per milliliter) in 2 patients, between 75 and 150 pmol per liter (100 and 200 pg per milliliter) in 16, and below 75 pmol per liter (100 pg per milliliter) in only 22. Except for one patient who died during the first week of treatment, every patient in this group benefited from cobalamin therapy. Responses included improvement in neuropsychiatric abnormalities (39 of 39), improvement (often within the normal range) in one or more hematologic findings (36 of 39), and a decrease of more than 50 percent in levels of serum methylmalonic acid, total homocysteine, or both (31 of 31). We conclude that neuropsychiatric disorders due to cobalamin deficiency occur commonly in the absence of anemia or an elevated mean cell volume and that measurements of serum methylmalonic acid and total homocysteine both before and after treatment are useful in the diagnosis of these patients.