Skip to main content
Top
Published in: BMC Surgery 1/2021

Open Access 01-12-2021 | Femoral Fracture | Case report

Further understanding on osteopetrotic femoral fractures: a case report and literature review

Authors: Haiqi Ding, Hongjiang Chen, Haiming Lin, Jiankun Xu, Zhonglian Huang, Wensheng Li, Jun Hu

Published in: BMC Surgery | Issue 1/2021

Login to get access

Abstract

Background

Osteopetrosis is a genetic disease characterized by defects in osteoclast formation and function. There were a few cases of subtrochanteric femur fractures treated with dynamic hip screw (DHS) in patients with osteopetrosis, but unfortunately the healing outcome was rather poor.

Case presentation

We present our experience for treating a patient with intermediate autosomal recessive osteopetrosis (IRO) suffering from subtrochanteric femur fracture. In this case, we successfully used dynamic hip screw (DHS) internal fixation through meticulous preoperative planning and postoperative care, as well as application of surgical techniques. The patient displayed stable internal fixation with no limitation of activities during follow-up for 15 months. In addition to this case, a review of previous case reports showed an increasing number of case reports demonstrating that surgical treatment-related complications could be avoided preoperatively, intraoperatively, and postoperatively.

Conclusion

DHS for this patient, who suffered from subtrochanteric fractures with osteopetrosis, was successfully implemented. In the light of a comprehensive literature review, preoperative planning, surgical techniques, and postoperative rehabilitation care can significantly reduce the complications.
Literature
1.
go back to reference RoviraMartí P, UllotFont R. Orthopaedic disorders of pycnodysostosis: a report of five clinical cases. Int Orthop. 2016;40:2221–31.CrossRef RoviraMartí P, UllotFont R. Orthopaedic disorders of pycnodysostosis: a report of five clinical cases. Int Orthop. 2016;40:2221–31.CrossRef
2.
go back to reference Palagano E, Menale C, Sobacchi C, Villa A. Genetics of osteopetrosis. Curr Osteoporos Rep. 2018;16:13–25.CrossRef Palagano E, Menale C, Sobacchi C, Villa A. Genetics of osteopetrosis. Curr Osteoporos Rep. 2018;16:13–25.CrossRef
3.
go back to reference Elster AD, Theros EG, Key LL, Chen MY. Cranial imaging in autosomal recessive osteopetrosis. Part I. Facial bones and calvarium. Radiology. 1992;183:129–35.CrossRef Elster AD, Theros EG, Key LL, Chen MY. Cranial imaging in autosomal recessive osteopetrosis. Part I. Facial bones and calvarium. Radiology. 1992;183:129–35.CrossRef
4.
go back to reference Fattore DA, Cappariello A, Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008;42:19–29.CrossRef Fattore DA, Cappariello A, Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008;42:19–29.CrossRef
5.
go back to reference George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, ScottSchwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. Biallelic mutations in MITF cause coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. Am J Hum Genet. 2016;99:1388–94.CrossRef George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, ScottSchwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. Biallelic mutations in MITF cause coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. Am J Hum Genet. 2016;99:1388–94.CrossRef
7.
go back to reference Kahler SG, Burns JA, Aylsworth AS. A mild autosomal recessive form of osteopetrosis. Am J Med Genet. 1984;17:451–64.CrossRef Kahler SG, Burns JA, Aylsworth AS. A mild autosomal recessive form of osteopetrosis. Am J Med Genet. 1984;17:451–64.CrossRef
8.
go back to reference Birmingham P, McHale KA. Case reports: treatment of subtrochanteric and ipsilateral femoral neck fractures in an adult with osteopetrosis. Clin Orthop Relat Res. 2008;466:2002–8.CrossRef Birmingham P, McHale KA. Case reports: treatment of subtrochanteric and ipsilateral femoral neck fractures in an adult with osteopetrosis. Clin Orthop Relat Res. 2008;466:2002–8.CrossRef
9.
go back to reference Chhabra A, Westerlund LE, Kline AJ, McLaughlin R. Management of proximal femoral shaft fractures in osteopetrosis: a case series using internal fixation. Orthopedics. 2005;28:587–92.CrossRef Chhabra A, Westerlund LE, Kline AJ, McLaughlin R. Management of proximal femoral shaft fractures in osteopetrosis: a case series using internal fixation. Orthopedics. 2005;28:587–92.CrossRef
10.
go back to reference Strickland JP, Berry DJ. Total joint arthroplasty in patients with osteopetrosis: a report of 5 cases and review of the literature. J Arthroplasty. 2005;20:815–20.CrossRef Strickland JP, Berry DJ. Total joint arthroplasty in patients with osteopetrosis: a report of 5 cases and review of the literature. J Arthroplasty. 2005;20:815–20.CrossRef
11.
go back to reference Bhargava A, Vagela M, Lennox CM. “Challenges in the management of fractures in osteopetrosis”! Review of literature and technical tips learned from long-term management of seven patients. Injury. 2009;40:1167–71.CrossRef Bhargava A, Vagela M, Lennox CM. “Challenges in the management of fractures in osteopetrosis”! Review of literature and technical tips learned from long-term management of seven patients. Injury. 2009;40:1167–71.CrossRef
12.
go back to reference Nampei A, Hashimoto J. Bone fracture and the healing mechanisms Metabolic bone disease and skeletal healing. Clin Calcium. 2009;19:648–52.PubMed Nampei A, Hashimoto J. Bone fracture and the healing mechanisms Metabolic bone disease and skeletal healing. Clin Calcium. 2009;19:648–52.PubMed
13.
go back to reference Amit S, Shehkar A, Vivek M, Shekhar S, Biren N. Fixation of subtrochanteric fractures in two patients with osteopetrosis using a distal femoral locking compression plate of the contralateral side. Eur J Trauma Emerg Surg. 2010;36:263–9.CrossRef Amit S, Shehkar A, Vivek M, Shekhar S, Biren N. Fixation of subtrochanteric fractures in two patients with osteopetrosis using a distal femoral locking compression plate of the contralateral side. Eur J Trauma Emerg Surg. 2010;36:263–9.CrossRef
14.
go back to reference Huang J, Pan J, Xu M, Xu S. Successful open reduction and internal fixation for displaced femoral fracture in a patient with osteopetrosis: case report and lessons learned. Medicine. 2017;96:e7777.CrossRef Huang J, Pan J, Xu M, Xu S. Successful open reduction and internal fixation for displaced femoral fracture in a patient with osteopetrosis: case report and lessons learned. Medicine. 2017;96:e7777.CrossRef
15.
go back to reference Seyfettinoglu F, Tuhanioğlu Ü, Ogur HU, Cicek H. Proximal femoral fracture surgery in a patient with osteopetrosis tarda: complications and treatment strategy. Int Med Case Rep J. 2016;9:347–51.CrossRef Seyfettinoglu F, Tuhanioğlu Ü, Ogur HU, Cicek H. Proximal femoral fracture surgery in a patient with osteopetrosis tarda: complications and treatment strategy. Int Med Case Rep J. 2016;9:347–51.CrossRef
16.
go back to reference Beighton P, Hamersma H, Cremin BJ. Osteopetrosis in South Africa. The benign, lethal and intermediate forms. S Afr Med J. 1979;55:659–65.PubMed Beighton P, Hamersma H, Cremin BJ. Osteopetrosis in South Africa. The benign, lethal and intermediate forms. S Afr Med J. 1979;55:659–65.PubMed
17.
go back to reference Horton WA, Schimke RN, Iyama T. Osteopetrosis: further heterogeneity. J Pediatr. 1980;97:580–5.CrossRef Horton WA, Schimke RN, Iyama T. Osteopetrosis: further heterogeneity. J Pediatr. 1980;97:580–5.CrossRef
18.
go back to reference Ramiah RD, Baker RP, Bannister GC. Conversion of failed proximal femoral internal fixation to total hip arthroplasty in osteopetrotic bone. J Arthroplasty. 2006;21:1200–2.CrossRef Ramiah RD, Baker RP, Bannister GC. Conversion of failed proximal femoral internal fixation to total hip arthroplasty in osteopetrotic bone. J Arthroplasty. 2006;21:1200–2.CrossRef
19.
go back to reference Matsuno T, Katayama N. Osteopetrosis and total hip arthroplasty. Report of two cases. Int Orthop. 1997;21:409–11.CrossRef Matsuno T, Katayama N. Osteopetrosis and total hip arthroplasty. Report of two cases. Int Orthop. 1997;21:409–11.CrossRef
20.
go back to reference Yang BJ, Chen CF, Lien IN. Rehabilitation of left femur subtrochanteric fracture in osteopetrosis—a case report. Taiwan yi xue hui za zhi. 1980;79:1180–7.PubMed Yang BJ, Chen CF, Lien IN. Rehabilitation of left femur subtrochanteric fracture in osteopetrosis—a case report. Taiwan yi xue hui za zhi. 1980;79:1180–7.PubMed
21.
go back to reference Ashby ME. Total hip arthroplasty in osteopetrosis. A report of two cases. Clin Orthopaed Relat Res. 1992:214–21. Ashby ME. Total hip arthroplasty in osteopetrosis. A report of two cases. Clin Orthopaed Relat Res. 1992:214–21.
22.
go back to reference de Palma L, Tulli A, Maccauro G, Sabetta SP, del Torto M. Fracture callus in osteopetrosis. Clin Orthopaed Relat Res. 1994:85–9. de Palma L, Tulli A, Maccauro G, Sabetta SP, del Torto M. Fracture callus in osteopetrosis. Clin Orthopaed Relat Res. 1994:85–9.
23.
go back to reference Armstrong DG, Newfield JT, Gillespie R. Orthopedic management of osteopetrosis: results of a survey and review of the literature. J Pediatr Orthop. 1999;19:122–32.PubMed Armstrong DG, Newfield JT, Gillespie R. Orthopedic management of osteopetrosis: results of a survey and review of the literature. J Pediatr Orthop. 1999;19:122–32.PubMed
24.
go back to reference Rolauffs B, Bernhardt TM, von Eiff C, Hart ML, Bettin D. Osteopetrosis, femoral fracture, and chronic osteomyelitis caused by Staphylococcus aureus small colony variants (SCV) treated by girdlestone resection—6-year follow-up. Arch Orthop Trauma Surg. 2002;122:547–50.CrossRef Rolauffs B, Bernhardt TM, von Eiff C, Hart ML, Bettin D. Osteopetrosis, femoral fracture, and chronic osteomyelitis caused by Staphylococcus aureus small colony variants (SCV) treated by girdlestone resection—6-year follow-up. Arch Orthop Trauma Surg. 2002;122:547–50.CrossRef
25.
go back to reference Su YJ, Chiang WK, Chang KS. Chalk bones and pathological fractures: case report and review of the literature. J Emerg Med. 2003;25:93–6.CrossRef Su YJ, Chiang WK, Chang KS. Chalk bones and pathological fractures: case report and review of the literature. J Emerg Med. 2003;25:93–6.CrossRef
26.
go back to reference Zhang ZF, Wang D, Wu LD, Dai XS. Case report: A 10 years follow-up of periprosthetic femoral fracture after total hip arthroplasty in osteopetrosis. Chin J Traumatol. 2017;20:173–6.CrossRef Zhang ZF, Wang D, Wu LD, Dai XS. Case report: A 10 years follow-up of periprosthetic femoral fracture after total hip arthroplasty in osteopetrosis. Chin J Traumatol. 2017;20:173–6.CrossRef
27.
go back to reference Cadosch D, Gautschi OP, Brockamp T, Zellweger R. Osteopetrosis—a challenge for the orthopaedic surgeon. S Afr J Surg. 2009;47:131–3.PubMed Cadosch D, Gautschi OP, Brockamp T, Zellweger R. Osteopetrosis—a challenge for the orthopaedic surgeon. S Afr J Surg. 2009;47:131–3.PubMed
28.
go back to reference Kumar D, Jain VK, Lal H, Arya RK, Sinha S. Metachronous bilateral subtrochanteric fracture of femur in an osteopetrotic bone: a case report with technical note. J Clin Orthop Trauma. 2012;3:103–6.CrossRef Kumar D, Jain VK, Lal H, Arya RK, Sinha S. Metachronous bilateral subtrochanteric fracture of femur in an osteopetrotic bone: a case report with technical note. J Clin Orthop Trauma. 2012;3:103–6.CrossRef
29.
go back to reference Golden RD, Rodriguez EK. Management of subtrochanteric femur fractures with internal fixation and recombinant human bone morphogenetic protein-7 in a patient with osteopetrosis: a case report. J Med Case Rep. 2010;4:142.CrossRef Golden RD, Rodriguez EK. Management of subtrochanteric femur fractures with internal fixation and recombinant human bone morphogenetic protein-7 in a patient with osteopetrosis: a case report. J Med Case Rep. 2010;4:142.CrossRef
30.
go back to reference Sonohata M, Okubo T, Ono H, Mawatari M, Hotokebuchi T. Bipolar hip arthroplasty for subtrochanteric femoral nonunion in an adult with autosomal dominant osteopetrosis type II. J Orthop Sci. 2011;16:652–5.CrossRef Sonohata M, Okubo T, Ono H, Mawatari M, Hotokebuchi T. Bipolar hip arthroplasty for subtrochanteric femoral nonunion in an adult with autosomal dominant osteopetrosis type II. J Orthop Sci. 2011;16:652–5.CrossRef
31.
go back to reference Kunnasegaran R, Chan YH. Use of an industrial tungsten carbide drill in the treatment of a complex fracture in a patient with severe osteopetrosis: a case report. Malays Orthop J. 2017;11:64–7.PubMedPubMedCentral Kunnasegaran R, Chan YH. Use of an industrial tungsten carbide drill in the treatment of a complex fracture in a patient with severe osteopetrosis: a case report. Malays Orthop J. 2017;11:64–7.PubMedPubMedCentral
32.
go back to reference Sen RK, Gopinathan NR, Kumar R, Saini UC. Simple reproducible technique in treatment for osteopetrotic fractures. Musculoskelet Surg. 2013;97:117–21.CrossRef Sen RK, Gopinathan NR, Kumar R, Saini UC. Simple reproducible technique in treatment for osteopetrotic fractures. Musculoskelet Surg. 2013;97:117–21.CrossRef
33.
go back to reference Huang T, Liang Q, Qian H, Li X, Zou C. Surgical treatment of an osteopetrotic patient with postoperative fractures: lessons from siblings with osteopetrosis. Tohoku J Exp Med. 2013;230:93–6.CrossRef Huang T, Liang Q, Qian H, Li X, Zou C. Surgical treatment of an osteopetrotic patient with postoperative fractures: lessons from siblings with osteopetrosis. Tohoku J Exp Med. 2013;230:93–6.CrossRef
34.
go back to reference Kumbaraci M, Karapinar L, Incesu M, Kaya A. Treatment of bilateral simultaneous subtrochanteric femur fractures with proximal femoral nail antirotation (PFNA) in a patient with osteopetrosis: case report and review of the literature. J Orthop Sci. 2013;18:486–9.CrossRef Kumbaraci M, Karapinar L, Incesu M, Kaya A. Treatment of bilateral simultaneous subtrochanteric femur fractures with proximal femoral nail antirotation (PFNA) in a patient with osteopetrosis: case report and review of the literature. J Orthop Sci. 2013;18:486–9.CrossRef
35.
go back to reference Matar HE, James LA. A challenging paediatric pathological femur fracture in pyknodysostosis (osteopetrosis acro-osteolytica): lessons learnt. BMJ Case Rep. 2014;2014. Matar HE, James LA. A challenging paediatric pathological femur fracture in pyknodysostosis (osteopetrosis acro-osteolytica): lessons learnt. BMJ Case Rep. 2014;2014.
36.
go back to reference Behera P, Khurana A, Saibaba B, Aggarwal S. Dealing with sub-trochanteric fracture in a child with osteopetrosis: a case report. Acta Orthop Belg. 2016;82:907–12.PubMed Behera P, Khurana A, Saibaba B, Aggarwal S. Dealing with sub-trochanteric fracture in a child with osteopetrosis: a case report. Acta Orthop Belg. 2016;82:907–12.PubMed
Metadata
Title
Further understanding on osteopetrotic femoral fractures: a case report and literature review
Authors
Haiqi Ding
Hongjiang Chen
Haiming Lin
Jiankun Xu
Zhonglian Huang
Wensheng Li
Jun Hu
Publication date
01-12-2021
Publisher
BioMed Central
Published in
BMC Surgery / Issue 1/2021
Electronic ISSN: 1471-2482
DOI
https://doi.org/10.1186/s12893-021-01107-4

Other articles of this Issue 1/2021

BMC Surgery 1/2021 Go to the issue