Glucose -6-Phosphate Isomerase Deficiency-A Rare Enzyme Deficiency Presenting As Non Spherocytic Hemolytic Hemolytic Anemia -A Case Series

摘要

USG performed was suggestive of porto-splenic venous thrombosis, patient was managed on L.M.W.H. followed by warfarin and chronic transfusions. Case 3. A 8 year old female k/c/o E B Thalassemia patient who was diag- nosed at 3 year of age and was receiving transfusions from outside at 4 to 5 months interval, presented with left focal seizures. On examination patient had hemolytic facies with short stature with hepatosplenomegaly. CNS Examination was within normal limit. CECT Head- revealed hemiatrophy of right cerebral hemisphere due to severe ischemic insult. MRI/MRA Brain suggested gliotic changes due to old ischaemic insult. Patient was managed with chronic transfusion therapy and anticonvulsants. No anti- coagulants therapy was given to this patient.