title: Severe pernicious anaemia in an 8-year-old African girl.
abstract: 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.
authors.affiliation: Department of Paediatrics & Child Health, College of Medicine, University of Malawi, Blantyre, Malawi. m.van.loon@mchaaglanden.nl
authors.forename: M
authors.initials: M
authors.lastname: van Loon
authors.forename: D G
authors.initials: DG
authors.lastname: Postels
authors.forename: G T
authors.initials: GT
authors.lastname: Heikens
authors.forename: E
authors.initials: E
authors.lastname: Molyneux
mesh_terms: D000752:Anemia, Pernicious / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D001259:Ataxia / Q000209:etiology; D002648:Child; D042241:Early Diagnosis; D005260:Female; D006397:Hematinics / Q000627:therapeutic use*; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use*; D018908:Muscle Weakness / Q000209:etiology; D010523:Peripheral Nervous System Diseases / Q000209:etiology; D014806:Vitamin B 12 Deficiency / Q000175:diagnosis
chemical_list: D006397:Hematinics; D006879:Hydroxocobalamin