van Loon M, Postels D G, Heikens G T, Molyneux E
Department of Paediatrics & Child Health, College of Medicine, University of Malawi, Blantyre, Malawi.
Ann Trop Paediatr. 2009 Sep;29(3):231-4. doi: 10.1179/027249309X12467994694094.
An 8-year-old girl presented with severe muscular weakness, peripheral neuropathy, ataxia, fever and macrocytic anaemia. Clinically, vitamin B(12) (cobalamin) deficiency was considered. Despite the lack of pre-treatment laboratory confirmation of the diagnosis, a therapeutic trial of hydroxocobalamin injections was begun. After several days, a partial clinical response was seen. Within 5 months all symptoms had resolved. After treatment was initiated, laboratory analysis of pre-treatment blood samples confirmed the presence of vitamin B(12) deficiency. Auto-antibodies to intrinsic factor and parietal cells, pathognomonic for pernicious anaemia, were confirmed. Vitamin B(12) deficiency owing to dietary deficiency is not uncommon in children in developing countries. Although nutritional deficiency might have played a role in our patient, this case illustrates that the neurological manifestations of pernicious anaemia can present at a young age in African populations.
一名8岁女孩出现严重肌无力、周围神经病变、共济失调、发热和大细胞性贫血。临床上考虑维生素B12（钴胺素）缺乏。尽管缺乏诊断前的实验室确诊，但仍开始了羟钴胺注射的治疗试验。几天后，出现了部分临床反应。5个月内所有症状均消失。开始治疗后，对治疗前血样的实验室分析证实存在维生素B12缺乏。证实存在针对内因子和壁细胞的自身抗体，这是恶性贫血的特征性表现。在发展中国家，儿童因饮食缺乏导致的维生素B12缺乏并不少见。虽然营养缺乏可能在我们的患者中起了作用，但这个病例表明，恶性贫血的神经学表现可在非洲人群的幼年出现。
