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Malign Osteopetrozisli Bir Olgu

Year 2014, Volume: 8 Issue: 1, 35 - 38, 01.12.2014

Abstract

Osteopetrozis kemik rezorpsiyon kusuru nedeniyle oluşan yaygın kemik sklerozuyla karekterize kalıtımsal bir hastalıktır. Osteopetrozisin malign formu infantlarda makrosefali, hepatosplenomegali, sağırlık, körlük ve ciddi anemiyle farkedilir. Hepatosplenomegali ve anemi nedeni araştırılırken malign osteopetrosiz tanısı alan hasta sunuldu.

References

  • Diniz G, Kayserilioğlu E, Ortaç R, Aktaş S, Hızarcıoğlu M. Osteopetrozis: Olgu sunumu ve yeni gelişmeler. Türkiye Ekopatoloji Dergisi 2004; 10: 137-140.
  • Stark Z, Savarirayon R. Orphanet J. Osteopetrosis. Rare Dis 2009; 20: 4-5.
  • Akgün M, Özyürek E, Ceyhan M, Akbalık M, Aydın M, Duru F. Osteopetrozis ve raşitizm birlikteliği: Bir vaka takdimi. Çocuk Sağlığı ve Hastalıkları Dergisi 2009; 52: 219-23
  • Someshwar VChate, Jaybhaye A, Somshekharan R, Rathod T. Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis. J Nat Sci Biol Med. 2011;2: 222-24
  • Venkateshwar V, Vaidya A, Roy P, Sampat S, Marshal JK. Osteopetrosis. MJAFI 2003;59: 344-46
  • Şekerci AE, Şişman Y, Ertaş ET, Sahman H, Aydınbelge M. Infantile malignant osteopetrosis: Report of 2 cases with osteomyelitis of the jaws. J Dent Child 2012;79: 93-9.
  • Aker M,  Rouvinski A,  Hashavia S,  Ta-Shma A,  Shaag A,  Zenvirt S,  et al. An SNX10 mutation causes malignant osteopetrosis of infancy. J Med Genet 2012;49: 221-26.
  • Alter BP, Young NS. Haematology of infancy and childhood. 4 th ed. Pennsylvania: WB Saunders Co, 1993:216-316.
  • Chen CJ, Chao TY, Chu DM, Janckila AJ, Cheng SN. Osteoblast and osteoclast activity in a malignant infantile osteopetrosis patient following bone marrow transplantation. J Pediatr Hematol Oncol 2004;26: 5-8.

A Case with Malignant Osteopetrosis

Year 2014, Volume: 8 Issue: 1, 35 - 38, 01.12.2014

Abstract

Osteopetrosis is a hereditary disorder that is caused by a bone resorption defect and characterized with diffuse sclerosis of the bones. The severe form is detected in infancy because of macrocephaly, hepatosplenomegaly, deafness, blindness, and severe anemia. In this article we reported a case diagnosed as malign osteopetrosis while investigating the causes of anemia and hepatosplenomegaly

References

  • Diniz G, Kayserilioğlu E, Ortaç R, Aktaş S, Hızarcıoğlu M. Osteopetrozis: Olgu sunumu ve yeni gelişmeler. Türkiye Ekopatoloji Dergisi 2004; 10: 137-140.
  • Stark Z, Savarirayon R. Orphanet J. Osteopetrosis. Rare Dis 2009; 20: 4-5.
  • Akgün M, Özyürek E, Ceyhan M, Akbalık M, Aydın M, Duru F. Osteopetrozis ve raşitizm birlikteliği: Bir vaka takdimi. Çocuk Sağlığı ve Hastalıkları Dergisi 2009; 52: 219-23
  • Someshwar VChate, Jaybhaye A, Somshekharan R, Rathod T. Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis. J Nat Sci Biol Med. 2011;2: 222-24
  • Venkateshwar V, Vaidya A, Roy P, Sampat S, Marshal JK. Osteopetrosis. MJAFI 2003;59: 344-46
  • Şekerci AE, Şişman Y, Ertaş ET, Sahman H, Aydınbelge M. Infantile malignant osteopetrosis: Report of 2 cases with osteomyelitis of the jaws. J Dent Child 2012;79: 93-9.
  • Aker M,  Rouvinski A,  Hashavia S,  Ta-Shma A,  Shaag A,  Zenvirt S,  et al. An SNX10 mutation causes malignant osteopetrosis of infancy. J Med Genet 2012;49: 221-26.
  • Alter BP, Young NS. Haematology of infancy and childhood. 4 th ed. Pennsylvania: WB Saunders Co, 1993:216-316.
  • Chen CJ, Chao TY, Chu DM, Janckila AJ, Cheng SN. Osteoblast and osteoclast activity in a malignant infantile osteopetrosis patient following bone marrow transplantation. J Pediatr Hematol Oncol 2004;26: 5-8.
There are 9 citations in total.

Details

Other ID JA56HZ38AS
Journal Section Case Report
Authors

İlknur Bodur This is me

M. Melek Oğuz This is me

Gonca Yılmaz This is me

Can Demir Karacan This is me

Pelin Zorlu This is me

Publication Date December 1, 2014
Submission Date December 1, 2014
Published in Issue Year 2014 Volume: 8 Issue: 1

Cite

Vancouver Bodur İ, Oğuz MM, Yılmaz G, Karacan CD, Zorlu P. A Case with Malignant Osteopetrosis. Türkiye Çocuk Hast Derg. 2014;8(1):35-8.


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