Chapuis Thomas M, Favrat Bernard, Bodenmann Patrick
Department of Ambulatory Medicine and Community Healthcare, University of Lausanne, Rue du Bugnon 44, CH-1011 Lausanne, Switzerland.
J Med Case Rep. 2009 Oct 20;3:80. doi: 10.1186/1752-1947-3-80.
We present the case of a patient with a cobalamin deficiency resulting in pancytopaenia, emphasizing the importance to define, diagnose and treat cobalamin deficiency.
A 52-year-old man from the Democratic Republic of Congo presented to the emergency department with shortness of breath and a sore tongue. Physical examination was unremarkable. His haemoglobin was low and the peripheral blood smear revealed pancytopaenia with a thrombotic microangiopathy. The findings were low cobalamin and folate levels, and high homocysteine and methylmalonate levels. Pernicious anaemia with chronic atrophic gastritis was confirmed by gastric biopsy and positive antiparietal cell and anti-intrinsic factor antibodies. Cobalamin with added folate was given. Six months later, the patient was asymptomatic.
Cobalamin deficiency should always be ruled out in a patient with pancytopaenia. Our case report highlights a life-threatening cobalamin deficiency completely reversible after treatment.
我们报告一例因钴胺素缺乏导致全血细胞减少的患者病例，强调明确、诊断和治疗钴胺素缺乏的重要性。
一名来自刚果民主共和国的52岁男性因呼吸急促和舌痛就诊于急诊科。体格检查无异常。他的血红蛋白水平较低，外周血涂片显示全血细胞减少伴血栓性微血管病。检查结果显示钴胺素和叶酸水平较低，同型半胱氨酸和甲基丙二酸水平较高。胃活检及抗壁细胞抗体和抗内因子抗体阳性确诊为伴有慢性萎缩性胃炎的恶性贫血。给予补充叶酸的钴胺素治疗。六个月后，患者无症状。
全血细胞减少的患者应始终排除钴胺素缺乏。我们的病例报告强调了一种经治疗后完全可逆的危及生命的钴胺素缺乏症。
