Patient was born at term and was admitted on day 1 of life for seizure like activity. Severe osteopenia changes were discovered incidentally on chest x-ray obtained for NG tube placement at 3 weeks of life. Lab evaluation showed very low alkaline phosphatase levels and hypercalcemia. Skeletal survey showed severe rachitic changes in long bone with metaphyseal fraying widening and cupping.
Citation: Alvina R Kansra (2015) Infantile Hypophosphatasia: An unusual Presentation and Novel Gene Mutation.Adv Genet Eng 3:i102. doi:10.4172/2169-0111.1000i102