Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia. (14th June 2018)

• Record Type: Journal Article
• Authors: Moulin, Virginie; Grandoni, Francesco; Castioni, Julien; Lu, Henri
• Is Part Of: BMJ case reports. Volume 2018
• Publication Date: 2018-06-14
• Subjects: psychiatry (drugs and medicines) -- malignant and benign haematology -- diabetes -- genetics; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2018-225035
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the SLC19A2 gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the case of a 25-year-old woman known for TRMA, who presented with pancytopenia (haemoglobin 7.6 g/dL, leucocytes 2.9×10 9 /L, thrombocytes 6×10 9 /L) revealed by dyspnoea. Investigations excluded coagulopathy, a recent viral infection, vitamin and iron deficiencies, and a malignant process. We later found out that thiamine treatment had been discontinued 5 weeks before, due to prescription error. Parenteral thiamine administration resulted in the recovery of haematopoiesis within 3 weeks. Pancytopenia is uncommon in patients with TRMA. Pre-existing medullary impairment caused by the patient's daily antipsychotic medications or the natural course of the syndrome may explain the severity of the laboratory findings in our patient.