Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report

Abstract

Thiamine-responsive megaloblastic anemia (TRMA) or Roger syndrome is a rare autosomal recessive disorder characterized by the occurrence of multiple clinical manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. A few patients have been also described with congenital cardiac malformations. The patients usually respond to treatment with pharmacological doses of thiamine. Mutations in the SLC19A2 gene, located at chromosome 1q24.2, are responsible for this syndrome. Here, we present two new Iranian TRMA patients who were homozygous for c.697C > T mutation in the SLC19A2 gene. On follow-up, one of the patients showed Ebstein anomaly. The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome. Therefore, follow-up of the affected children should be considered.