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.
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.
Details
| Other ID | JA56HZ38AS |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 1, 2014 |
| Submission Date | December 1, 2014 |
| Published in Issue | Year 2014 Volume: 8 Issue: 1 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 10 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.