Recurrent Ischemic Stroke in A Child with Thiamine Responsive Megaloblastic Anemia Syndrome

摘要

Thiamine responsive megaloblastic anemia syndrome (TRMA) (OMIM 249270) is a rare, autosomal recessive inherited disorder characterized by a triad of megaloblastic anemia, diabetes mellitus and sensorineural deafness. Mutations in the SLC19A2 gene, encoding a high-affinity thiamine transporter protein, THTR-1, are responsible for the clinical features associated with TRMA. Here, we report a 20 month-old boy with TRMA. During evaluation of recurrent stroke and megaloblastic anemia homozygous mutation in SLC19A2 gene (c.242-243 insA) was detected. Additionally homozygote MTHFR C677 and heterozygote MTHFR A1298 mutations were also detected in thrombosis panel. As far as we know this is the first TRMA case with homozygote MTHFR C677 and heterozygote MTHFR A1298 mutations in the literature.