Yenidoğan Döneminde Tanı Alan Osteopetrozis Vakası

Öz

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

Anahtar Kelimeler

• Osteopetrozis,kemik,yenidoğan

A Case of Osteopetrosis Diagnosed in Neonatal Period

Öz

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

Anahtar Kelimeler

• Osteopetrosis,bone,newborn

Kaynakça

1. 1. Stoker DJ. Osteopetrosis. Semin Musculoskelet Radiol 2002; 4:299-305.
2. 2. Elster AD, Theros EG, Key LL et al. Cranial Imaging in Autosomal Recessive osteopetrosis. Radiology 1992; 183:129-35.
3. 3. Key LL, Ries WL. Osteopetrosis, The Pharmaco-Physiolgic Basis of Therapy. Clin Orthop Relat Res 1993; 294:85-89.
4. 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. 5. Wilson CJ, Vellodi A. Autosomal recessive osteopetrosis: diagnosis, management and out come. Arch Dis Child 2000; 83:449-52.
6. 6. Shapiro F. Osteopetrosis current clinical considerations. Clin Orthop Relat Res 1993; 294:34-44.
7. 7. Del Fattore A, Cappariello A,Teti A. Genetics, pathogenesis, and complications of osteopetrosis. Bone. 2008; 42(1):19-29.
8. 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. 9. De Vernejoul MC. Sclerosing bone disorders. Best Pract Res Clin Rheumatol 2008; 22:71-83.
10. 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. 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. 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. 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. 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.