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Published on: July 3, 2020
Infantile osteopetrosis with superimposed rickets
Korcan Aysun Gonen1, Zeynep Yazici, Gokhan Gokalp
1Medical Faculty, Department of Radiology, Uludag University, Gorukle, Bursa, Turkey 16059.
Insights
Rickets is a common complication in infantile osteopetrosis, affecting 90% of patients. Early diagnosis using skeletal X-rays is crucial for managing this condition.
Area of Science:
- Pediatric Endocrinology
- Skeletal Dysplasias
- Metabolic Bone Diseases
Background:
- Infantile osteopetrosis is a rare genetic disorder characterized by impaired osteoclast function and bone resorption.
- Rickets, a condition of soft and weak bones, can complicate infantile osteopetrosis, necessitating early recognition.
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.
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