Infantile osteopetrosis with superimposed rickets

Background Rickets is a complication of infantile osteopetrosis and pre-treatment recognition of this complication is important. Objective To describe four children with infantile osteopetrosis complicated by rickets (osteopetrorickets) and review the relevant literature. Materials and methods Retrospective chart analysis of four infants with osteopetrorickets and a systematic review of the relevant literature. Results We saw five children with infantile osteopetrosis, of whom four had superimposed rickets, for a period of 12 years. The review of the literature (including the current four children), yielded 20 children with infantile osteopetrorickets. The children ranged in age from 2 months to 12 months. In all children, hepatosplenomegaly was found. Sixteen (80%) children had visual impairments and eight (40%) children had hearing impairments. Serum calcium-phosphorus product was less than 30 in 18 children (90%). Twelve children (60%) were hypocalcemic and 18 (90%) were hypophosphatemic. In all children, the radiological examination demonstrated diffuse bony sclerosis and metaphyseal splaying and fraying of long bones. Five children (25%) had pathological fracture of extremities and 15 (75%) had rachitic rosary. Conclusion Rickets as a complication to infantile osteopetrosis is not uncommon. Skeletal roentgenograms are of critical importance in the diagnosis of both osteopetrosis and superimposed rickets.