Kenan KOCABAY, Hakan UZUN, Bünyamin DİKİCİ, Yılmaz Ebru KESKİN, Ayhan ERDEM, Dursun Ali ŞENSES

A rare cause of neonatal hypocalcemia: malignant infantile osteopetrosis

Malignant infantile osteopetrosis (MIOP) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, which results in generalized osteosclerosis. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure and nerve compression. Symptoms related to early or late hypocalcemia may appear as the first presentation of MIOP in a newborn. We present a 14-day-old boy with neonatal hypocalcaemia due to MIOP.

Anahtar Kelimeler:

Malignant infantile osteopetrosis, neonatal hypocalcaemia

A rare cause of neonatal hypocalcemia: malignant infantile osteopetrosis

Keywords:

Malignant infantile osteopetrosis, neonatal hypocalcaemia,

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1. Fasth A, Porras O. Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 1999; 3: 102-7.
2. Shapiro F, Key LL, Anast C. Variable osteoclast appearance in human infantile osteopetrosis. Calcif Tissue Int 1988; 43: 67- 76.
3. Felix R, Hofstetter W, Cecchini MG. Recent developments in the understanding of the pathophysiology of osteopetrosis. Eur J Endocrinol 1996; 134: 143-56.
4. Gerritsen EJA, Vossen JM, Van Loo IH, Hermans J, Helfrich MH, Griscelli C et al. Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics 1994; 93: 247-53.
5. Malkani K, Luxembourger MM, Rebel A. Cytoplasmic modifications at the contact zone of osteoclasts and calcified tissue in the diaphyseal growing plate of foetal guinea-pig tibia Calcif Tissue Res 1973; 11: 258-64.
6. Delaisse JM, Vaes G. Mechanism of mineral solubilization and matrix degradation in osteoclastic bone resorption. In: Rifkin R, Gay CV (eds). Biology and Physiology of the Osteoclast. London: CRC Press. 1992: 289-314.
7. Garret RI, Boyce BF, Oreffo ROC, Bonewald L, Poser J, Mundy GR . Oxygen-derived free radicals stimulate osteoclastic bone resorption in rodent bone in vitro and in vivo. J Clin Invest 1990; 85: 632-9.
8. Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001; 10: 1767-73.
9. Abinun M, Newson T, Rowe PW, Flood TJ, Cant AJ. Importance of neurologic assessment before bone marrow transplantation for osteopetrosis. Arch Dis Child 1999; 80: 273-274.
10. Avery ME, Dorst JP, Walker DG. Osteopetrosis. In: Bergsma D (ed). Clinical Delineation of Birth Defects. IV. Skeletal Dysplasia. New York: Mosby, 1969: 305-11.
11. Srinivasan M, Abinun M, Cant AJ, Tan K, Oakhill A, Steward CG. Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia. Arch Dis Child Fetal Neonatal Ed 2000; 83: 21-3.
12. Kaplan FS, August CS, Fallon MD, Gannon F, Haddad JG. Osteopetrorickets. The paradox of plenty. Pathophysiology and treatment. Clin Orthop Relat Res 1993; 294: 64-78.
13. Datta V, Prajapati NC, Kamble M, Pathak S. Osteopetrorickets. Indian Pediatr 2000; 37: 98-9.
14. Popp D, Zieger B, Schmitt-Gräff A, Nützenadel W, Schaefer F. Malignant osteopetrosis obscured by maternal vitamin D deficiency in a neonate. Eur J Pediatr 2000; 159: 412-415.
15. Lehman RA, Reeves JD, Wilson WB, Wesenberg RL. Neurologic complications of infantile osteopetrosis. Ann Neurolo 1977; 2: 378-384.
16. Dini G, Floris R, Garaventa A, Oddone M, De Stefano F, De Marco R et al. Long term follow up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation. Bone Marrow Transplant 2000; 26: 219-224.
17. Kubo T, Tanaka H, Ono H, Moriwake T, Kanzaki S, Seino Y. Malignant osteopetrosis treated with high dose of 1-ahydroxyvitamin D3 and interferon gamma. J Pediatr. 1993; 123: 264-268.
18. Reeves JD, Huffer WE, August CS, Hathaway WE, Koerper M, Walters CE. The hematopoetic effects of prednisone therapy in four infants with osteopetrosis. J Pediatr 1979; 94: 210-214.
19. Del Fattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M et al. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. J Med Genet 2006; 43: 315-25.
20. Coccia PF, Krivit W, Cervenka J, Clawson C, Kersey JH, Kim TH et al. Successful bone marrow transplantation for infantile malignant osteopetrosis. N. Engl J Med 1980; 302: 701-708.