Moulin Virginie, Grandoni Francesco, Castioni Julien, Lu Henri
Department of Internal Medicine, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Department of Hematology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
BMJ Case Rep. 2018 Jun 14;2018:bcr-2018-225035. doi: 10.1136/bcr-2018-225035.
Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the 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/L, thrombocytes 6×10/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.
硫胺素反应性巨幼细胞贫血（TRMA）是一种与巨幼细胞贫血、糖尿病和感音神经性耳聋相关的综合征，由编码硫胺素载体蛋白的基因突变引起。口服补充硫胺素是主要治疗方法。我们报告了一例25岁已知患有TRMA的女性病例，她因呼吸困难就诊，检查发现全血细胞减少（血红蛋白7.6g/dL，白细胞2.9×10/L，血小板6×10/L）。检查排除了凝血病、近期病毒感染、维生素和铁缺乏以及恶性病变。后来我们发现，由于处方错误，硫胺素治疗在5周前已停止。胃肠外给予硫胺素导致造血功能在3周内恢复。全血细胞减少在TRMA患者中并不常见。患者日常服用的抗精神病药物或该综合征的自然病程导致的既往骨髓损伤可能解释了我们患者实验室检查结果的严重程度。
