Endocrine Abstracts

Introduction: Thiamine responsive megaloblastic anemia syndrome(TRMA), is an autosomal recessive disorder due to mutation of gene (SLC19A2) encoding thiamine transporter protein TRMA ischaracterized by a triad of anemia, diabetes mellitus, and sensorineural deafness.

Case report: A 15 year old girl admitted to the ERwith diabetic ketoacidosis. She was diagnosed as neonatal diabetesat the age of 16 months and wasput on insulin therapy. Her parents arehealthyfirst cousins. Heryounger sister was deaf, diabetic, died at age of 18 month. At the age to 2 monthsHer mother noticed her child dyspneic with rapidheart beats. Upon medical consultation she was diagnosed as having severe anemia (Hemoglobin: 3 g/dl). Where shereceived blood transfusion. The attacks were recurrent & bone marrow examination was done by the age of 2 revealing; megaloblastic anemia with ringed sideroblasts. She was kept on frequent blood transfusion every 2 weeks. At the age of 9 months, her mother noticed poor response to voices. Audiometry was done showingsensory neural hearing loss and hearing aids were offered . At the age of 2 years, upongradual diminution of vision, electroretinography showed bilateral retinal dystrophy and retinitis pigmentosa.

At the age of 9 years, She startedVitamin B1, B6 and B12 Supplementation which markedly reduced the frequency of blood transfusion (1 packed RBCs every 3–4 months). Menarche occurred at the age of 14 years with (Oligomenorrhea)

Physical examination: No dysmorphic features.pulse: 115/minute, pallor. Grade III/VI systolic ejection murmur, over the base.

Laboratory findings: Hemoglobin 7.5 g/dl, MCV 115 fl hematocrit 18%, and white blood cell count 10 000/mm³ (60% neutrophil, 36% lymphocytes, 4% monocyte). The reticulocyte count; 1% platelet count; 106000/mm³. The peripheral smear showed anisopoikilocytosis with a predominance of macrocytic cells and no hemolytic findings. Bone marrow aspirate showed normal cellularity but abnormal erythropoiesis with megaloblastic and dyserythropoietic. ECG showed premature atrial extrasystoles with partial RBBB verapamil 40 mg/day was recommended. The patient was put on high dose of oral thiamine (75 mg daily). Hemoglobin showed a steady rise (to Hb = 12.8 g/dl) with mild anisocytosis, decreased frequency of transfusion. She was given a hearing aidplanned for cochlear implant.

Conclusion: Children presenting with the triad of anemia, diabetes and deafness should be evaluated for TRMA syndrome, especially in areas with high background consanguinity Stressing the need toward early diagnosis and treatment with thiamine.