Cobalamin deficiency resulting in a rare haematological disorder: a case report.
BACKGROUND
We present the case of a patient with a cobalamin deficiency resulting in pancytopaenia, emphasizing the importance to define, diagnose and treat cobalamin deficiency.


METHODS
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.


CONCLUSIONS
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.
Chapuis
Thomas M
TM
Department of Ambulatory Medicine and Community Healthcare, University of Lausanne, Rue du Bugnon 44, CH-1011 Lausanne, Switzerland.
Favrat
Bernard
B
Bodenmann
Patrick
P