Rogers syndrome (thiamine responsive megaloblastic anemia syndrome): the success of multidisciplinary approach

Abstract

Thiamine responsive megaloblastic anemia syndrome is a rare autosomal recessive metabolic disorder. Only ~80 cases have been described mainly in consanguineous families. A gene SLC19A2 coding high affinity thiamine transporter mediating vitamin B1 uptake through cell membrane has been identified. Classic triad of features is characteristic to the disease - megaloblastic anemia, deafness and non-type I diabetes. We report a 3y old boy born in nonconsanguineous family. From the early days the boy was easy irritable and suffered with common affecto-respiratory spasms. The psychomotor abilities developed according to age. The slowdown of speech development was noticed from the 7th month of life. Insulin dependent non-type 1 diabetes was diagnosed at the age of 1y. At the age of 1.5y the profound bilateral hearing loss was diagnosed and cochlear implantation performed with good auditory and speech outcomes. During 3rd year of life severe megaloblastic anemia without folic acid or vitamine B12 deficiency and bilateral maculopathy has developed. The coding sequence of GJB2 gene was analyzed and genotype c.[313_326delAAGTTCATCAAGGG];[=] (p.[(Lys105Glyfs*5)];[=]) was identified. MtDNA 1555A>G mutation was not revealed. The patient had slightly elevated branched chain amino acids (Leu, Ile, Val) in plasma. The clinical diagnosis of TRMA syndrome was suspected and daily supplementation with thiamine 100mg started. The condition of the patient markedly improved several days after the initiation of treatment - therapy has positive effect on anemia and glycemia, also psychological status of the child clearly improved. The results of SLC19A2 gene molecular testing will be achieved in the near future.