Abstract
Case 1 A 12-month-old boy, born to a nonconsanguineous Hindu couple was brought for evaluation of recurrent severe pallor, skin bleeds and hearing impairment. There had been short lasting response to prior treatment with Packed Red Blood Cells (PRBC), oral iron, folic acid and vit. B12. Examination revealed severe pallor, and multiple petechiae over the body. There was no response to sounds. Investigations revealed fasting sugar of 160 mg/dL, hemoglobin of 4.3 g/dL, platelets of 20,000/cu.mm, normal total and differential leucocyte counts (TLC and DLC), and dimorphic anemia on peripheral smear. Serum ferritin, folic acid and B12 levels were normal. Bone marrow examination revealed erythroid hyperplasia with megaloblastic changes. Brainstem audiometry revealed no identifiable waves bilaterally. On oral thiamine (150 mg per day), his hemoglobin increased to 7 g/dL and platelets to 700,000/cu.mm in 5 days. Insulin therapy of 1 IU/kg/day was stopped on day 16. Following discontinuation of thiamine 1 month later, random blood sugar levels increased to 230 mg/dl within 1 week. After restarting thiamine, euglycemia was restored. The child has been periodically followed up on daily thiamine for 5 years now. Both the hemoglobin and glycosylated hemoglobin have remained in the normal range. His deafness has persisted.
Published Version
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