I would like to have most probable diagnosis of an infant (3mnths) with persistent anemia(requiring regular transfusions since birth) failure to thrive, delayed development, only hepatomegaly on examination, candidiasis, with history of sibling deaths at 3-6 months of life, consanguineous marriage of parents.. following investigations were normal- TORCH, HIV, BONE MARROW ASPIRATION, THALASSEMIA PROFILE (except low serum iron), SKELETAL SURVEY, ONLY LFT's WERE DERANGED.Could it be a storage disorder? He has a history of septicemia with hyperbilirubinemia requiring phototherapy and then herpes hepatitis in neonatal period but repeat herpes titres at 2 months of age were normal. Although thyroid function tests were never performed so could it be due to hypothyroidism too??
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