ESPE Abstracts

Introduction: Thiamine-responsive megaloblastic anemia syndrome (TRMA) a rare autosomal recessive condition described by megaloblastic anemia, diabetes mellitus and progressive sensorineural hearing loss. The onset occurs between infancy and adolescence. Thiamine treatment correct the anemia, but the red blood cells remain macrocytic; the anemia can recur when thiamine treatment seized. Progressive sensorineural hearing loss can be started early in kids; it is irreversible and might not be averted by thiamine treatment. The nature of diabetes mellitus is non-type 1 and the onset is from infancy to adolescence. We report a 7-month-old male infant with megaloblastic anemia, thrombocytopenia and diabetes mellitus. He had significant sensorineural hearing loss that detected upon admission. Diagnosis made on clinical features, laboratory findings, and molecular genetic test. He had dramatic response of anemia, thrombocytopenia, and glycemic control to exogenous thiamine therapy.

Case report: A 7-months old boy admitted to the hospital with poor appetite, hypo activity and pallor for 3 days duration. The boy was born to double first cousin consanguineous Arabic parents. Pallor increased over 2 weeks duration. Blood test revealed anemia. Fasting serum glucose 323 mg/dL, C‐peptide and Insulin were low and HbA1c 9.2%, Islet cell antigen, Insulin autoantibodies (IAA), Islet cell abs (ICA)and Glutamic acid decarboxylase abs were normal The whole exome sequence (WES) identified the homozygous variant c.454_458dellns TA p. (Gly 152_Met 153 dellns, chr1: 169446742) in SLC192A2 (OMIM: 603941). This confirms homozygosity of the detected variant in the child, the variant is classified as pathogenic which confirm the Roger syndrome (Thiamin Responsive Megaloblastic Anemia TRMA). Patient was started on oral thiamine 30 mg /day and vitamin D3 supplement as well as subcutaneous insulin titrated 0.3-0.5units/kg/day (Insulin Glargine once daily and insulin Humalog (Lispro) 3-4 times daily with meals).

Conclusion: TRMA syndrome should be kept in mind especially in neonates and children presenting with a triad of megaloblastic anemia, diabetes mellitus and hearing impairment. Genetic analysis warranted to confirm the diagnosis. We believe that early genetic testing and establishment of thiamine treatment can correct anemia and accomplish euglycemia along with enhancement of the glycemic control