tailieunhanh - Báo cáo y học: " Cobalamin deficiency resulting in a rare haematological disorder: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: T Cobalamin deficiency resulting in a rare haematological disorder: a case report | Journal of Medical Case Reports BioMed Central Open Access Case report Cobalamin deficiency resulting in a rare haematological disorder a case report Thomas M Chapuis Bernard Favrat and Patrick Bodenmann Address Department of Ambulatory Medicine and Community Healthcare University of Lausanne Rue du Bugnon 44 CH-1011 Lausanne Switzerland Email Thomas M Chapuis - Bernard Favrat - Patrick Bodenmann - Corresponding author Published 20 October 2009 Received 9 January 2009 Journal of Medical Case Reports 2009 3 80 doi 1752-1947-3-80 Accepted 20 October 2009 This article is available from http content 3 1 80 2009 Chapuis et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. 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 .