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Published in: Journal of Medical Case Reports 1/2009

Open Access 01-12-2009 | Case report

Cobalamin deficiency resulting in a rare haematological disorder: a case report

Authors: Thomas M Chapuis, Bernard Favrat, Patrick Bodenmann

Published in: Journal of Medical Case Reports | Issue 1/2009

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Abstract

Introduction

We present the case of a patient with a cobalamin deficiency resulting in pancytopaenia, emphasizing the importance to define, diagnose and treat cobalamin deficiency.

Case presentation

A 52-year-old man from the Democratic Republic of Congo presented to the emergency department with shortness of breath and a sore tongue. Physical examination was unremarkable. His haemoglobin was low and the peripheral blood smear revealed pancytopaenia with a thrombotic microangiopathy. The findings were low cobalamin and folate levels, and high homocysteine and methylmalonate levels. Pernicious anaemia with chronic atrophic gastritis was confirmed by gastric biopsy and positive antiparietal cell and anti-intrinsic factor antibodies. Cobalamin with added folate was given. Six months later, the patient was asymptomatic.

Conclusion

Cobalamin deficiency should always be ruled out in a patient with pancytopaenia. Our case report highlights a life-threatening cobalamin deficiency completely reversible after treatment.
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Metadata
Title
Cobalamin deficiency resulting in a rare haematological disorder: a case report
Authors
Thomas M Chapuis
Bernard Favrat
Patrick Bodenmann
Publication date
01-12-2009
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2009
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/1752-1947-3-80

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