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Piknodisostozis: Uzun Kemik Kırıklarında Kanal İçi Çivilemenin Cerrahi Zorlukları: Vaka Sunumu

Year 2017, Volume: 19 Issue: 2, 125 - 130, 31.08.2017
https://doi.org/10.24938/kutfd.317075

Abstract

Osteopetrosis akro-osteolotika olarak da bilinen piknodisostozis, otozomal resesif kalıtım özelliği gösteren, nadir görülen sklerotik bir kemik hastalığıdır. Hastalığın karakteristik özellikleri boy kısalığı, kraniyel sütürlerin geç kapanması, falanksların tam ya da kısmi displazisi, mandibula köşelerinin geniş açılı olması, iskelet anomalileri ve artmış kemik yoğunluğudur. Bu hastalarda, lizozomal sistein proteaz ve katepsin K enzim defektleri nedeniyle kırılgan kemik oluşumuna neden olan tip I kollajen katabolizması ve kemik rezorbsiyon defektleri mevcuttur. Bu makalede, sol subtrokanterik femur kırığı gelişmiş olan piknosiostozisli 45 yaşında bir hasta bildirilmektedir. Amacımız, piknodisostozis hastalarında uzun kemik kırıklarının kanal içi çivilenmesi sırasında karşılaşılan zorlukları gözden geçirmektir.

References

  • 1. Matar HE, James LA. A challenging paediatric pathological femur fracture in pyknodysostosis (osteopetrosis acro-osteolytica): lessons learnt. BMJ case reports. 2014;2014:207730.
  • 2. Darcan S, Akisu M, Taneli B, Kendir G. A case of pycnodysostosis with growth hormone deficiency. Clin Genet. 1996;50:422-5.
  • 3. Naeem M, Sheikh S, Ahmad W. A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin. BMC medical genetics. 2009;10:76.
  • 4. Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, et al. Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Human mutation. 2007;28:524.
  • 5. Maroteaux P, Lamy M. Pyknodysostosis. Presse Med. 1962;70:999-1002.
  • 6. Kundu ZS, Marya KM, Devgan A, Yadav V, Rohilla S. Subtrochanteric fracture managed by intramedullary nail in a patient with pycnodysostosis. Joint Bone Spine. 2004;71:154-6.
  • 7. Fleming KW, Barest G, Sakai O. Dental and facial bone abnormalities in pyknodysostosis: CT findings. AJNR American journal of neuroradiology. 2007;28:132-4.
  • 8. Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N. Pycnodysostosis with unusual findings: a case report. Cases J. 2009;2:6544.
  • 9. Alves Pereira D, Berini Aytes L, Gay Escoda C. Pycnodysostosis. A report of 3 clinical cases. Med Oral Patol Oral Cir Bucal. 2008;13:633-5.
  • 10. Roth VG. Pycnodysostosis presenting with bilateral subtrachanteric fractures: case report. Clinical orthopaedics and related research. 1976;247-53.
  • 11. Bor N, Rubin G, Rozen N. Fracture management in pycnodysostosis: 27 years of follow-up. J Pediatr Orthop B. 2011;20:97-101.
  • 12. Hashem J, Krochak R, Culbertson MD, Mileto C, Goodman H. Atypical femur fractures in a patient with pycnodysostosis: a case report. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. 2015;26:2209-12.
  • 13. Whyte MP, McAlister WH, Novack DV, Clements KL, Schoenecker PL, Wenkert D. Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases. J Bone Miner Res. 2008;23:1698-707.
  • 14. Shane E, Burr D, Ebeling PR, Abrahamsen B, Adler RA, Brown TD, Cheung AM, Cosman F, Curtis JR, Dell R, Dempster D, Einhorn TA, Genant HK, Geusens P, Klaushofer K, Koval K, Lane JM, McKiernan F, McKinney R, Ng A, Nieves J, O'Keefe R, Papapoulos S, Sen HT, van der Meulen MC, Weinstein RS, Whyte M. Atypical subtrochanteric and diaphyseal femoral fractures: report of a task force of the American Society for Bone and Mineral Research. J Bone Miner Res. 2010;25:2267-94.
  • 15. Taylor MM, Moore TM, Harvey JP, Jr. Pycnodysostosis. A case report. The Journal of bone and joint surgery American volume. 1978;60:1128-30.
  • 16. Yuasa T, Maeda K, Kaneko K, Yoshikata K. Total Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis. Case Rep Orthop. 2015;2015:731910.
  • 17. Nakase T, Yasui N, Hiroshima K, Ohzono K, Higuchi C, Shimizu N, Yoshikawa H. Surgical outcomes after treatment of fractures in femur and tibia in pycnodysostosis. Archives of orthopaedic and trauma surgery. 2007;127:161-5.
  • 18. Yates CJ, Bartlett MJ, Ebeling PR. An atypical subtrochanteric femoral fracture from pycnodysostosis: a lesson from nature. Journal of bone and mineral research. 2011;26:1377-9.

PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT

Year 2017, Volume: 19 Issue: 2, 125 - 130, 31.08.2017
https://doi.org/10.24938/kutfd.317075

Abstract

Pycnodysostosis, known as osteopetrosis acro-osteolytica, is a rare sclerotic bone disease with an autosomal recessive heritage pattern. Characteristic features of the disease are short stature, delayed closure of cranial sutures, partial or total dysplasia of the phalanges, obtuse mandibular angle, skeletal abnormalities and increased bone density. Type I collagen catabolism and bone resorption are defective in these patient due to lysosomal cysteine protease and cathepsin K enzyme defects resulting in dense and more brittle bones. Herein, we report a 45-year-old pycnodysostozis patient with a subtrochanteric transverse fracture of the left femur. We aim to reveal the difficulties encountered during intramedullary nailing of long bone fractures of patients with pycnodysostosis.

References

  • 1. Matar HE, James LA. A challenging paediatric pathological femur fracture in pyknodysostosis (osteopetrosis acro-osteolytica): lessons learnt. BMJ case reports. 2014;2014:207730.
  • 2. Darcan S, Akisu M, Taneli B, Kendir G. A case of pycnodysostosis with growth hormone deficiency. Clin Genet. 1996;50:422-5.
  • 3. Naeem M, Sheikh S, Ahmad W. A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin. BMC medical genetics. 2009;10:76.
  • 4. Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, et al. Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Human mutation. 2007;28:524.
  • 5. Maroteaux P, Lamy M. Pyknodysostosis. Presse Med. 1962;70:999-1002.
  • 6. Kundu ZS, Marya KM, Devgan A, Yadav V, Rohilla S. Subtrochanteric fracture managed by intramedullary nail in a patient with pycnodysostosis. Joint Bone Spine. 2004;71:154-6.
  • 7. Fleming KW, Barest G, Sakai O. Dental and facial bone abnormalities in pyknodysostosis: CT findings. AJNR American journal of neuroradiology. 2007;28:132-4.
  • 8. Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N. Pycnodysostosis with unusual findings: a case report. Cases J. 2009;2:6544.
  • 9. Alves Pereira D, Berini Aytes L, Gay Escoda C. Pycnodysostosis. A report of 3 clinical cases. Med Oral Patol Oral Cir Bucal. 2008;13:633-5.
  • 10. Roth VG. Pycnodysostosis presenting with bilateral subtrachanteric fractures: case report. Clinical orthopaedics and related research. 1976;247-53.
  • 11. Bor N, Rubin G, Rozen N. Fracture management in pycnodysostosis: 27 years of follow-up. J Pediatr Orthop B. 2011;20:97-101.
  • 12. Hashem J, Krochak R, Culbertson MD, Mileto C, Goodman H. Atypical femur fractures in a patient with pycnodysostosis: a case report. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. 2015;26:2209-12.
  • 13. Whyte MP, McAlister WH, Novack DV, Clements KL, Schoenecker PL, Wenkert D. Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases. J Bone Miner Res. 2008;23:1698-707.
  • 14. Shane E, Burr D, Ebeling PR, Abrahamsen B, Adler RA, Brown TD, Cheung AM, Cosman F, Curtis JR, Dell R, Dempster D, Einhorn TA, Genant HK, Geusens P, Klaushofer K, Koval K, Lane JM, McKiernan F, McKinney R, Ng A, Nieves J, O'Keefe R, Papapoulos S, Sen HT, van der Meulen MC, Weinstein RS, Whyte M. Atypical subtrochanteric and diaphyseal femoral fractures: report of a task force of the American Society for Bone and Mineral Research. J Bone Miner Res. 2010;25:2267-94.
  • 15. Taylor MM, Moore TM, Harvey JP, Jr. Pycnodysostosis. A case report. The Journal of bone and joint surgery American volume. 1978;60:1128-30.
  • 16. Yuasa T, Maeda K, Kaneko K, Yoshikata K. Total Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis. Case Rep Orthop. 2015;2015:731910.
  • 17. Nakase T, Yasui N, Hiroshima K, Ohzono K, Higuchi C, Shimizu N, Yoshikawa H. Surgical outcomes after treatment of fractures in femur and tibia in pycnodysostosis. Archives of orthopaedic and trauma surgery. 2007;127:161-5.
  • 18. Yates CJ, Bartlett MJ, Ebeling PR. An atypical subtrochanteric femoral fracture from pycnodysostosis: a lesson from nature. Journal of bone and mineral research. 2011;26:1377-9.
There are 18 citations in total.

Details

Subjects Health Care Administration
Journal Section Case Reports
Authors

İbrahim Canbeyli

Meriç Çırpar

Birhan Oktaş This is me

Cüneyt Emre Ökkeşim This is me

Publication Date August 31, 2017
Submission Date May 30, 2017
Published in Issue Year 2017 Volume: 19 Issue: 2

Cite

APA Canbeyli, İ., Çırpar, M., Oktaş, B., Ökkeşim, C. E. (2017). PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT. Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, 19(2), 125-130. https://doi.org/10.24938/kutfd.317075
AMA Canbeyli İ, Çırpar M, Oktaş B, Ökkeşim CE. PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT. Kırıkkale Uni Med J. August 2017;19(2):125-130. doi:10.24938/kutfd.317075
Chicago Canbeyli, İbrahim, Meriç Çırpar, Birhan Oktaş, and Cüneyt Emre Ökkeşim. “PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT”. Kırıkkale Üniversitesi Tıp Fakültesi Dergisi 19, no. 2 (August 2017): 125-30. https://doi.org/10.24938/kutfd.317075.
EndNote Canbeyli İ, Çırpar M, Oktaş B, Ökkeşim CE (August 1, 2017) PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT. Kırıkkale Üniversitesi Tıp Fakültesi Dergisi 19 2 125–130.
IEEE İ. Canbeyli, M. Çırpar, B. Oktaş, and C. E. Ökkeşim, “PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT”, Kırıkkale Uni Med J, vol. 19, no. 2, pp. 125–130, 2017, doi: 10.24938/kutfd.317075.
ISNAD Canbeyli, İbrahim et al. “PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT”. Kırıkkale Üniversitesi Tıp Fakültesi Dergisi 19/2 (August 2017), 125-130. https://doi.org/10.24938/kutfd.317075.
JAMA Canbeyli İ, Çırpar M, Oktaş B, Ökkeşim CE. PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT. Kırıkkale Uni Med J. 2017;19:125–130.
MLA Canbeyli, İbrahim et al. “PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT”. Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, vol. 19, no. 2, 2017, pp. 125-30, doi:10.24938/kutfd.317075.
Vancouver Canbeyli İ, Çırpar M, Oktaş B, Ökkeşim CE. PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT. Kırıkkale Uni Med J. 2017;19(2):125-30.

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