یک مورد آنمی مگالوبلاستیک مقاوم پاسخ دهنده به تیامین

Thiamine responsive megaloblastic anemia (TRMA), also known as Roger syndrome is an autosomal recessive disorder resulting from the deficiency of thiamine (Vitamin B1) transporter protein. This is the report of a 3- year follow up of a female child who presented in 2000 at the age of 11 with severe anemia, congenital deafness and diabetes mellitus. In our follow-up period we prescribed 100-mg thiamine tablet daily and after that there was a rise in her hemoglobin level to normal. Her hyperglycemia was controlled during the early phase of treatment. It recurred several months after start of treatment, but needed lower doses of insulin for control. Hearing loss did not respond to thiamine. Presently, the patient is apparently in good condition with normal hemoglobin level.