Rogers syndrome (thiamine responsive megaloblastic anemia syndrome): the first case in Lithuania

Abstract

Rogers syndrome – thiamine responsive megaloblastic anemia (TRMA) syndrome is a very rare autosomal recessive hereditary disorder. Only ~80 cases have been described to date mainly in consanguineous families. Three main features are characteristic to the disease – megaloblastic anemia, early onset deafness and non-type I diabetes. TRMA is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine transporter has been identified. Thiamine transporter mediates vitamin B1 uptake through cell membrane. We present the first case of Rogers syndrome in Lithuania – a 3 years old boy born in nonconsanguineous family. From the early days of life the boy was easy irritable and suffered with common affecto-respiratory spasm episodes. The psychomotor abilities developed according to age. Regress of the development of speech was noticed on the 7th month of life. At the age of 1.5 years the profound bilateral hearing loss was diagnosed and cochlear implantation was performed with good auditory and speech outcomes. Non-type 1 diabetes was diagnosed at the age of 1 year, treated with insulin infusions. During 3rd year of life severe megaloblastic anemia without folic acid or vitamine B12 deficiency has developed, ophthalmologic examination revealed bilateral maculopathy. The coding sequence of GJB2 gene was analyzed and genotype c. [(313_326delAAGTTCATCAAGGG)];[=]. p. [(Lys105Glyfs*5)];[=] has been 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 was started. The condition of the patient markedly improved several days after the initiation of treatment – therapy so far has positive effect on anemia and control of glycemia, also psychological status of the child has clearly improved. The results of SLC19A2 gene molecular testing confirmed clinical diagnosis – novel homoz