title: Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemia.
abstract: We report case of an infant who presented with failure to thrive and developmental delay at 4 months of age. He was diagnosed to have vitamin B12 deficiency and antibodies to intrinsic factor secondary to undiagnosed maternal pernicious anemia. The child was treated with hydroxocobalamin and now at 2 years of age, he is developing and growing within normal range. We review the literature on this rare cause of cobalamin deficiency in infants. We highlight the factors determining the outcome and situations where raised index of suspicion could help in recognizing this preventable cause of developmental delay and learning difficulties.
authors.affiliation: Academic Unit of Medical Genetics, University of Manchester, Manchester, UK. siddharth.banka@manchester.ac.uk
authors.forename: Siddharth
authors.initials: S
authors.lastname: Banka
authors.forename: Ruth
authors.initials: R
authors.lastname: Roberts
authors.forename: Dianne
authors.initials: D
authors.lastname: Plews
authors.forename: William G
authors.initials: WG
authors.lastname: Newman
mesh_terms: D000328:Adult; D000752:Anemia, Pernicious / Q000150:complications*; D042241:Early Diagnosis; D005183:Failure to Thrive; D005260:Female; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use; D007223:Infant; D008297:Male; D016896:Treatment Outcome; D014806:Vitamin B 12 Deficiency / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D014803:Vitamin B Complex / Q000627:therapeutic use
chemical_list: D014803:Vitamin B Complex; D006879:Hydroxocobalamin