BibTex RIS Kaynak Göster

Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement

Yıl 2009, Cilt: 15 Sayı: 1, 57 - 59, 01.02.2009

Ahmet Mete Çağatay Andıç Ayhan Özkur Eda Parlak

Öz

Camurati-Engelmann hastalığı ya da ilerleyici diafizyel displazi, nadir, otozomal dominant geçişli bir kemik hastalığıdır. Özellikle uzun kemiklerin diafizlerini etkileyen ilerleyici genişleme ve skleroz bu hastalığın karakteristik özelliğidir. Vertebra ve toraks kafesi tutulumu sadece ciddi vakalarda görülmektedir. Bu olguda direk grafi ve BT incelemelerinde, bilateral femur ve tibia diafizlerinde, vertebralarda, pelvis ve kostalarda simetrik genişleme ve sklerozis izlendi. Lomber BT incelemelerinde bu hastalık için tipik olan özellikle arka elemanlardaki tutulum dikkat çekici idi. Vertebra korpuslarının, kostaların ve pelvis kemiklerinin eş zamanlı ve belirgin tutulumu ile sporadik oluşu bu olguyu dikkat çekici kılmaktadır. Literatürde bu kadar diffüz tutulumla karakterize olguya rastlamadık.

Anahtar Kelimeler

Camurati-Engelmann hastalýðý Kemik displazisi Hiperostozis

Kaynakça

  • 1. Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, et al. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet. 2006;43(l):l-ll 2. Brat HG, Hamoir X, Matthijs P, Lambin P, Van Campenhoudt M. Camurati-Engelmann disease: a late and sporadic case with metaphyseal involvement. Eur Radiol. 1999;9(1): 159-162
  • 3. Simsek S, Janssens K, Kwee ML, Van Hul W, Veenstra J, Netelenbos JC. Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family
  • Osteoporos Int. 2005;16(9): 1167-1170
  • 4. Bondestam J, Mayranpaa MK, Ikegawa S, Marttinen E, Kroger H, Makitie 0. Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease
  • Clin Rheumatol. 2007;26(10): 1773-1777
  • 5. Aggarwal P, Wali JP, Sharma SK. Progressive diaphyseal dysplasia: case report and literature review. Orthopedics
  • 1990;13(8):901-904
  • 6. Falion MD, Whyte MP, Murphy WA. Progressive diaphyseal dysplasia (Engelmann's disease). Report of a sporadic case of the mild form. J Bone Joint Surg Am
  • 1980;62(3):465-472
  • 7. Kaftori JK, Kleinhaus U, Naveh Y. Progressive diaphyseal dysplasia (Camurati-Engelmann): radiographic follow- up and CT findings. Radiology. 1987;164(3):777-782
  • 8. Grey AC, Wallace R, Crone M. Engelmann's disease: a 45-year follow-up. J Bone Joint Surg Br. 1996;78(3):488-491
  • 9. Sparkes RS, Graham CB. Camurati-Engelmann disease
  • Genetics and clinical manifestations with a review of the literature. J Med Genet. 1972;9(l):73-85
  • 10. Hundley JD, Wilson FC. Progessive diaphyseal dysplasia. Review of the literature and report of seven cases in one family. J Bone Joint Surg Am. 1973;55(3):461-474
  • 11. Resnick D. Diagnosis of bone and joint disorders
  • 3rd ed. Philadelphia: Saunders, 1995
  • 12. Greenspan A. Sclerosing bone dysplasias-a target- site approach. Skeletal Radiol. 1991;20(8):561-583

Camurati-engelmann hastalığı: Vertebral ve pelvik tutulumla seyreden geç ve nadir sporadik olgu

Yıl 2009, Cilt: 15 Sayı: 1, 57 - 59, 01.02.2009

Ahmet Mete Çağatay Andıç Ayhan Özkur Eda Parlak

Öz

Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is a rare, autosomal dominantly inherited bone disease. Progressive expansion and sclerosis predominantly affecting the diaphyses of the long bones are the characteristic hallmarks of this disease. The vertebral and thoracic-cage involvement is seen only in the most severe cases. This case is of interest because of its markedly involvement of vertebral bodies, ribs and pelvis at the same time, severe form and sporadic presentation. Also we were not able to find a report such a kind of diffuse involvement in the literature.

Anahtar Kelimeler

-

Kaynakça

  • 1. Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, et al. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet. 2006;43(l):l-ll 2. Brat HG, Hamoir X, Matthijs P, Lambin P, Van Campenhoudt M. Camurati-Engelmann disease: a late and sporadic case with metaphyseal involvement. Eur Radiol. 1999;9(1): 159-162
  • 3. Simsek S, Janssens K, Kwee ML, Van Hul W, Veenstra J, Netelenbos JC. Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family
  • Osteoporos Int. 2005;16(9): 1167-1170
  • 4. Bondestam J, Mayranpaa MK, Ikegawa S, Marttinen E, Kroger H, Makitie 0. Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease
  • Clin Rheumatol. 2007;26(10): 1773-1777
  • 5. Aggarwal P, Wali JP, Sharma SK. Progressive diaphyseal dysplasia: case report and literature review. Orthopedics
  • 1990;13(8):901-904
  • 6. Falion MD, Whyte MP, Murphy WA. Progressive diaphyseal dysplasia (Engelmann's disease). Report of a sporadic case of the mild form. J Bone Joint Surg Am
  • 1980;62(3):465-472
  • 7. Kaftori JK, Kleinhaus U, Naveh Y. Progressive diaphyseal dysplasia (Camurati-Engelmann): radiographic follow- up and CT findings. Radiology. 1987;164(3):777-782
  • 8. Grey AC, Wallace R, Crone M. Engelmann's disease: a 45-year follow-up. J Bone Joint Surg Br. 1996;78(3):488-491
  • 9. Sparkes RS, Graham CB. Camurati-Engelmann disease
  • Genetics and clinical manifestations with a review of the literature. J Med Genet. 1972;9(l):73-85
  • 10. Hundley JD, Wilson FC. Progessive diaphyseal dysplasia. Review of the literature and report of seven cases in one family. J Bone Joint Surg Am. 1973;55(3):461-474
  • 11. Resnick D. Diagnosis of bone and joint disorders
  • 3rd ed. Philadelphia: Saunders, 1995
  • 12. Greenspan A. Sclerosing bone dysplasias-a target- site approach. Skeletal Radiol. 1991;20(8):561-583
Toplam 17 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Ahmet Mete Bu kişi benim

Çağatay Andıç Bu kişi benim

Ayhan Özkur Bu kişi benim

Eda Parlak Bu kişi benim

Yayımlanma Tarihi 1 Şubat 2009
Yayımlandığı Sayı Yıl 2009 Cilt: 15 Sayı: 1

Kaynak Göster

APA Mete, A., Andıç, Ç., Özkur, A., Parlak, E. (2009). Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement. Gaziantep Medical Journal, 15(1), 57-59.
AMA Mete A, Andıç Ç, Özkur A, Parlak E. Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement. Gaziantep Medical Journal. Şubat 2009;15(1):57-59.
Chicago Mete, Ahmet, Çağatay Andıç, Ayhan Özkur, ve Eda Parlak. “Camurati-Engelmann Disease: A Late and Rare Sporadic Case With Vertebral and Pelvic Involvement”. Gaziantep Medical Journal 15, sy. 1 (Şubat 2009): 57-59.
EndNote Mete A, Andıç Ç, Özkur A, Parlak E (01 Şubat 2009) Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement. Gaziantep Medical Journal 15 1 57–59.
IEEE A. Mete, Ç. Andıç, A. Özkur, ve E. Parlak, “Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement”, Gaziantep Medical Journal, c. 15, sy. 1, ss. 57–59, 2009.
ISNAD Mete, Ahmet vd. “Camurati-Engelmann Disease: A Late and Rare Sporadic Case With Vertebral and Pelvic Involvement”. Gaziantep Medical Journal 15/1 (Şubat 2009), 57-59.
JAMA Mete A, Andıç Ç, Özkur A, Parlak E. Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement. Gaziantep Medical Journal. 2009;15:57–59.
MLA Mete, Ahmet vd. “Camurati-Engelmann Disease: A Late and Rare Sporadic Case With Vertebral and Pelvic Involvement”. Gaziantep Medical Journal, c. 15, sy. 1, 2009, ss. 57-59.
Vancouver Mete A, Andıç Ç, Özkur A, Parlak E. Camurati-engelmann disease: A late and rare sporadic case with vertebral and pelvic involvement. Gaziantep Medical Journal. 2009;15(1):57-9.