Infantile osteopetrosis with superimposed rickets
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Rickets is a complication of infantile osteopetrosis and pre-treatment recognition of this complication is important.
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.
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.
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.
- Hall CM (2002) International nosology and classification of constitutional disorders of bone. Am J Med Genet 113:65–77 CrossRef
- Kaplan FS, August CS, Fallon MD et al (1993) Osteopetrorickets. The paradox of plenty. Pathophysiology and treatment. Clin Orthop 294:64–78
- Donnelly LF, Johnson JF III, Benzing G (1995) Infantile osteopetrosis complicated by rickets. AJR 164:968–970 CrossRef
- Atay AA, Kurekci AE, Azik FM et al (2009) High dose calcitriol in osteopetrorickets. J Pediat Endoc Meta 22:1179–1183
- Zamboni G, Cecchettin M, Marradi P et al (1977) Association of osteopetrosis and vitamin D-resistant rickets. Helv Paediatr Acta 32:363–368
- Oliveira G, Boechat MI, Amaral SM et al (1986) Osteopetrosis and rickets: an intriguing association. Am J Dis Child 140:377–378
- Di Rocco M, Buoncompagni A, Loy A et al (2000) Osteopetrorickets: case report. Eur J Pediatr 159:579–581 CrossRef
- Datta V, Prajapati NC, Kamble M et al (2000) Case reports. Indian Pediatr 37:98–99
- Kirubakaran C, Ranjini K, Scott JX et al (2004) Osteopetrorickets. J Trop Pediatr 50:185–186 CrossRef
- Unachak K, Visrutaratna P, Dejkamron P et al (2004) Infantile osteopetrosis in four Thai infants. J Pediatr Endocrinol Metab 17:1455–1459 CrossRef
- Patra S, Pemde HK, Singh V et al (2009) Infantile osteopetrorickets. Indian J Pediatr 76:1182–1183 CrossRef
- Demirel F, Esen I, Tunc B et al (2010) Scarcity despite wealth: osteopetrorickets. J Pediatr Endocrinol Metab 23:931–934 CrossRef
- Biyyam DR, Done S (2010) Osteopetrorickets: infantile malignant osteopetrosis paradoxically complicated by rickets. Pediatr Radiol 40:782 CrossRef
- Ortner DJ (2003) Identification of pathological conditions in human skeletal remains, 2nd edn. Academic Press, San Diego
- Gropper SS, Smith JL, Groff JL (2009) Advanced nutrition and human metabolism, 5th edn. Wadsworth Cengage Learning, Belmont
- Infantile osteopetrosis with superimposed rickets
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