Severe pernicious anaemia in an 8-year-old African girl

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 pretreatment 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.