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Early Diagnosis and Treatment of Cobalamin Deficiency of Infancy Owing to Occult Maternal Pernicious Anemia

Banka, Siddharth MBBS, MRCHPH*; Roberts, Ruth MBBS, FRCPCH; Plews, Dianne MBChB, MRCP, FRCPath; Newman, William G. FRCP, PhD*

Journal of Pediatric Hematology/Oncology: May 2010 - Volume 32 - Issue 4 - p 319-322
doi: 10.1097/MPH.0b013e3181d74719
Clinical and Laboratory Observations

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.

*Academic Unit of Medical Genetics, University of Manchester, Manchester Academic Health Science Centre, Department of Genetic Medicine, St. Mary's Hospital, Manchester, UK

Department of Paediatrics, Friarage Hospital

Department of Haematology, James Cook University Hospital, Middlesbrough

Supported by the Manchester NIHR Biomedical Research Centre.

Reprints: Siddharth Banka, MBBS, MRCHPH, Department of Genetic Medicine, 6th floor, St. Mary's Hospital, Manchester. M13 9WL, UK (e-mail:

Received for publication December 11, 2009; accepted January 29, 2010

Financial disclosure and Conflict of interest: None declared.

© 2010 Lippincott Williams & Wilkins, Inc.