1例硫胺素响应性巨幼细胞贫血综合征合并脑梗死患儿的诊治并文献复习OA

Thiamine-responsive megaloblastic anemia syndrome(TRMA)is a rare autosomal recessive inherited disease.The mutation of SLC19A2 gene leads to the impairment of thiamine transport function,and its clinical manifestation is the triad of megaloblastic anemia,diabetes and sensorineural deafness.This article reports a 5-month-old child who was admitted to the hospital due to anemia and fever,and was diagnosed with TRMA through genetic testing.The child showed multiple system involvement,including anemia,diabetes ketoacidosis,deafness and large area of left intracranial infarction.After thiamine supplementation,insulin control of blood glucose and symptomatic support treatment,anemia and limb function were significantly improved,blood glucose was stable,and the quality of life was greatly improved.This article aims to assist clinicians in early identification of TRMA,promote standardized diagnosis and treatment,and improve the prognosis and quality of life of the children.