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Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası

Year 2008, Volume: 8 Issue: 4, 257 - 260, 01.10.2008

Abstract

On günlük erkek bebek sarılık yakınması ile hastanemize getirildi. Bebeğin fizik incelemesinde deri ikterik, karaci- ğer kosta altında 5 cm, dalak 6 cm ele geliyordu, diğer sistem muayenelerinde özellik yoktu. Laboratuvar incele- melerinde hemoglobin 10,6 g/dL, hematokrit % 32, lökosit sayısı 8,284/mm3, trombosit sayısı 25,400/mm3, saptandı. Radyografik incelemelerde yaygın osteoskleroz görülmesi ile osteopetrozis tanısı kondu. Hasta kemik iliği nakli plan- lanarak takibe alındı

References

  • 1. Stoker DJ. Osteopetrosis. Semin Musculoskelet Radiol 2002; 4:299-305.
  • 2. Elster AD, Theros EG, Key LL et al. Cranial Imaging in Autosomal Recessive osteopetrosis. Radiology 1992; 183:129-35.
  • 3. Key LL, Ries WL. Osteopetrosis, The Pharmaco-Physiolgic Basis of Therapy. Clin Orthop Relat Res 1993; 294:85-89.
  • 4. Horton WA, Hecht JT. Disorders involving defective bone esorption. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF (eds). Nelson Textbook of Pediatrics (18th edition), Philadelphia, Saunders, 2007: 2882-83.
  • 5. Wilson CJ, Vellodi A. Autosomal recessive osteopetrosis: diagnosis, management and out come. Arch Dis Child 2000; 83:449-52.
  • 6. Shapiro F. Osteopetrosis current clinical considerations. Clin Orthop Relat Res 1993; 294:34-44.
  • 7. Del Fattore A, Cappariello A,Teti A. Genetics, pathogenesis, and complications of osteopetrosis. Bone. 2008; 42(1):19-29.
  • 8. Borthwich KJ, Kandemir N, Topaloğlu R, et al. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet 2003; 40:115-21.
  • 9. De Vernejoul MC. Sclerosing bone disorders. Best Pract Res Clin Rheumatol 2008; 22:71-83.
  • 10. Gerritsen EJ, Vossen JM, Fasth A, et al. Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. J Pediatr 1994; 125:896- 902.
  • 11. Chiodo DC, Dirocco M, Gandolfo C, et al. Neuroimaging finding in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics 2007; 38:154-6.
  • 12. Abinium M, Newson T, Rove PW, Flood TJ, Cant AJ. Importance of neurological assesment before bone marrov transplantation for osteopetrosis. Arch Dis Child 1999; 80: 273-4.
  • 13. Key LL, Carnes D, Cole S, et al. Treatment of congenital osteopetrosis with high dose calcitriol. N Engl J Med 1984; 310:409-15.
  • 14. Key LL, Rodriguiz RM, Willi SM et al. Long Term Treatment of Osteopetrosis with Recombinant Human İnterferon Gamma. N Engl J Med 1995; 332:1594-9.

A Case of Osteopetrosis Diagnosed in Neonatal Period

Year 2008, Volume: 8 Issue: 4, 257 - 260, 01.10.2008

Abstract

A ten day old male newborn infant was brought to the hos- pital because of jaundice. In addition to jaundice, hepato- megaly 6 cm and splenomegaly 5 cm were present. Laboratory findings revealed anemia hemoglobin 10.6 g/ dl and hematocrite 32 % and thrombositopenia 25400/ mm3 . Osteopetrosis was diagnosed after diffuse osteoscle- rosis was seen on radiography. The baby was discharged and bone marrow transplantation was planned

References

  • 1. Stoker DJ. Osteopetrosis. Semin Musculoskelet Radiol 2002; 4:299-305.
  • 2. Elster AD, Theros EG, Key LL et al. Cranial Imaging in Autosomal Recessive osteopetrosis. Radiology 1992; 183:129-35.
  • 3. Key LL, Ries WL. Osteopetrosis, The Pharmaco-Physiolgic Basis of Therapy. Clin Orthop Relat Res 1993; 294:85-89.
  • 4. Horton WA, Hecht JT. Disorders involving defective bone esorption. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF (eds). Nelson Textbook of Pediatrics (18th edition), Philadelphia, Saunders, 2007: 2882-83.
  • 5. Wilson CJ, Vellodi A. Autosomal recessive osteopetrosis: diagnosis, management and out come. Arch Dis Child 2000; 83:449-52.
  • 6. Shapiro F. Osteopetrosis current clinical considerations. Clin Orthop Relat Res 1993; 294:34-44.
  • 7. Del Fattore A, Cappariello A,Teti A. Genetics, pathogenesis, and complications of osteopetrosis. Bone. 2008; 42(1):19-29.
  • 8. Borthwich KJ, Kandemir N, Topaloğlu R, et al. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet 2003; 40:115-21.
  • 9. De Vernejoul MC. Sclerosing bone disorders. Best Pract Res Clin Rheumatol 2008; 22:71-83.
  • 10. Gerritsen EJ, Vossen JM, Fasth A, et al. Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. J Pediatr 1994; 125:896- 902.
  • 11. Chiodo DC, Dirocco M, Gandolfo C, et al. Neuroimaging finding in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics 2007; 38:154-6.
  • 12. Abinium M, Newson T, Rove PW, Flood TJ, Cant AJ. Importance of neurological assesment before bone marrov transplantation for osteopetrosis. Arch Dis Child 1999; 80: 273-4.
  • 13. Key LL, Carnes D, Cole S, et al. Treatment of congenital osteopetrosis with high dose calcitriol. N Engl J Med 1984; 310:409-15.
  • 14. Key LL, Rodriguiz RM, Willi SM et al. Long Term Treatment of Osteopetrosis with Recombinant Human İnterferon Gamma. N Engl J Med 1995; 332:1594-9.
There are 14 citations in total.

Details

Primary Language Turkish
Journal Section Research Articles
Authors

Yalçın Çelik This is me

Bülent Aziz Özkan This is me

Sibel Balcı This is me

Aytuğ Atıcı This is me

Publication Date October 1, 2008
Published in Issue Year 2008 Volume: 8 Issue: 4

Cite

APA Çelik, Y., Özkan, B. A., Balcı, S., Atıcı, A. (2008). Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası. Journal of Child, 8(4), 257-260.
AMA Çelik Y, Özkan BA, Balcı S, Atıcı A. Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası. Journal of Child. October 2008;8(4):257-260.
Chicago Çelik, Yalçın, Bülent Aziz Özkan, Sibel Balcı, and Aytuğ Atıcı. “Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası”. Journal of Child 8, no. 4 (October 2008): 257-60.
EndNote Çelik Y, Özkan BA, Balcı S, Atıcı A (October 1, 2008) Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası. Journal of Child 8 4 257–260.
IEEE Y. Çelik, B. A. Özkan, S. Balcı, and A. Atıcı, “Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası”, Journal of Child, vol. 8, no. 4, pp. 257–260, 2008.
ISNAD Çelik, Yalçın et al. “Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası”. Journal of Child 8/4 (October 2008), 257-260.
JAMA Çelik Y, Özkan BA, Balcı S, Atıcı A. Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası. Journal of Child. 2008;8:257–260.
MLA Çelik, Yalçın et al. “Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası”. Journal of Child, vol. 8, no. 4, 2008, pp. 257-60.
Vancouver Çelik Y, Özkan BA, Balcı S, Atıcı A. Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası. Journal of Child. 2008;8(4):257-60.