A rare case of Pyruvate Kinase deficiency
Journal Title: Medpulse International Journal of Pediatrics - Year 2018, Vol 5, Issue 1
Abstract
A 7 months old female child brought to us with complaints of abdominal distention and increased pallor since one month. Child also had failure to thrive and developmental delay. On examination, had severe pallor with hepatosplenomegaly. Investigations revealed severe anemia with Macrocytosis with Reticulocytosis along with indirect hyperbilirubinemia. Work up for hemolytic anemia done. Enzyme studies revealed Pyruvate Kinase deficiency. Child was transfused with PCV and folate supplementation done. Child’s general condition improved. On regular blood transfusion. Clinical Presentation similar to Thalassemia.
Authors and Affiliations
Harshal Wagh, Swapnil Mirajkar, Sudha Bhave
Keywords
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