Thiamine-Responsive Megaloblastic Anemia Syndrome: Long Term Follow-Up

Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease. (J Pediatr 2009; 155:295-7)