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.