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Multiple pathologic fractures in a 19-month-old boy with sickle cell disease.


Sickle cell disease is an inherited autosomal recessive disorder of the, 8-globin gene caused by mutation in position 6 with replacement of glutamate by valine [1]. Among other complications, bone involvement is a well-documented feature in this disease [2]. Different anatomic sites are affected with variable manifestations and outcomes [3-6].

One of the most common forms of bone involvement is osteomyelitis [7]. patients with sickle cell disease have an increased incidence of osteomyelitis compared with the general population [8]. Osteomyelitis is documented as a complication of sickle cell disease in studies from different parts of the world [7,9-12]; the prevalence is as high as 18% in a study by Buison et al. [9] from Cameroon, and as low as 10 in 2000 in one study from the United States [7]. The common etiologic factor is Salmonella [7,13] although some studies have reported that Staphylococcus aureus is the predominant microorganism [14]. Osteomyelitis and bone infarction commonly occur concomitantly and differentiation between them is difficult using radiographs and bone scanning [7,15].

Other sequelae of sickle cell disease include vascular necrosis of the bone [16]. The prevalence of this morbidity was reported to be 26.6% in one study [16]; another study documented 464 sites of bone and bone marrow infarctions among the patients studied. Those authors concluded that knowledge of the distribution of the sites of bone infraction is of considerable clinical and diagnostic importance in the ongoing evaluation and treatment of sickle cell hemoglobinopathy [17]. Vascular necrosis of the bone was associated with a higher number of hospital admissions and a higher rate of painful crises [18,19].

Osteopenia and osteoporosis are associated with sickle cell disease [20-24]. Iron overload has been correlated with this complication [20,21,25] and the explanation for this might be the inhibition of osteoblast proliferation and differentiation by iron [26]. Other correlations include low body mass index [21,27], low serum level of zinc [22] and low hemoglobin [28]. However, no association has been found between low bone mineral density and vitamin D status [24,27], which suggests abnormal bone formation as an underlying mechanism. In agreement with this is the fact that treatment of patients with sickle cell disease with vitamin D and calcium restores 25-hydroxyvitamin D levels to normal but markers of bone resorption remain unclear [29].

Osteomyelitis, a vascular necrosis of the bone, and ostopenia are associated with increased risk of pathologic fractures in sickle cell disease [4,14,30].

Case report

A 19-month-old boy, diagnosed with sickle cell disease at the age of 7 months, was homozygous for the hemoglobinopathy. He had a history of repeated hospital admissions because of anemia and he had undergone 4 transfusions since birth. He was brought to the emergency department because he was ill and inactive.

The parents noticed that the baby was ill and cried especially when they tried to hold him or make him setting up. They gave no history of trauma or falling; they mentioned that he does not go to daycare and is always at home with the mother; she denied any falls or trauma during bathing, playing or falling from the bed. There was no history of a similar condition.

On first assessment, he was conscious, ill, in pain and adopted an adductive position for the upper and lower limbs. Respiratory rate was 30/min. Pulse rate was 132/min. Temperature was 38.7[degrees]C. There was no bruises, scratches, lacerations or any other marks on the skin and no swelling or wounds on the skull. He was slightly jaundiced and pale. His chest was clear. The liver was palpable 2 cm below the costal margin, soft and not tender. The spleen was also palpable 2 cm below the costal margin. His limbs were a bit swollen, warm, very tender and he avoided movement and touch. His developmental status was normal for his age.

His laboratory findings were as follows: Hb was 4 g/dl, total white cell count was 12 x [10.sup.9]/l, and the platelet count was 414 x 109/l and the reticulocyte count was 3%. The peripheral blood film showed a dimorphic picture with sickle cells. Liver biochemistry, creatinine, electrolytes and urine analysis were normal.

Abdominal ultrasonography showed an enlarged liver with normal texture and no local lesions, splenomegaly 13 cm, no gallstones and normal kidneys. Plain radiographs of the lower limbs and pelvis showed multiple fractures at different anatomic sites including the right and left upper femur (Fig. 1), right and left lower femur (Fig. 2) and right proximal tibia and fibula (Fig. 2). Fractures at all sites were simple fractures.

The differential diagnosis of multiple fractures includes trauma, child abuse, pathologic fractures. No history of trauma was given and there was no previous history of trauma. Regarding the possibility of child abuse, from the history, the parents emphasized that there was no history of trauma making the possibility of child abuse unlikely. On examination there was no evidence of violence and from the radiographs, all the fractures were at the same age, which again weakened this diagnosis. In addition, there was no history of a previous similar condition.

A pathologic fracture by definition is a fracture that occurs on a diseased bone without trauma or after minor trauma, and bone diseases such as osteomyelitis and vascular necrosis of the bone are well-known complications of sickle cell disease.


The patient was admitted, transfused and received intravenous ciftrixone for 3 weeks, followed by oral augmentin for another 3 weeks. The fractures were managed conservatively, first by avoiding movement and relieving pain with paracetamol. After 3 weeks we encouraged the parents to mobilize him gradually; after 3 months he was able to walk alone without pain and his serial radiographs showed good bone healing (Fig. 3).


Pathologic spontaneous fractures are fractures through weak or diseased bones of abnormal composition; most of the causes are benign [31]. The commonest cause of pathologic fracture in white children in most reports is simple or unicameral bone cysts [32]. In data from Africa, the most common cause is osteomyelitis [33], which is a well-known complication of sickle cell disease [2,3].

Pathologic fractures have been reported in patients with sickle cell disease who have osteomyelitis [34] or in occasional cases when osteomyelitis complicates pathologic fracture later after healing [35]. Pathologic fracture was reported as a comorbidity in sickle cell disease, where it accompanied splenic abscess [36].

Long bones are affected as well as the vertebral column [37,38]. This bone involvement usually indicates severe disease [39-41] and has been reported from different geographic locations [8,32,42,43], which reflects that it is universal in the natural history of the disease and hence represents a major chronic morbidity that may need invasive management, which itself may carry more risk to the patient [44].

In all the reports reviewed, the pathologic fracture involved one anatomic site with the exception of one report [34] that described bilateral fractures, but not in a patient with sickle cell disease. Here we report multiple pathologic fractures in a young patient with sickle cell disease. To our knowledge, multiple pathologic fractures in sickle cell disease have not been reported previously.

DOI: 10.1102/1470-5206.2013.0012


[1.] Ingram VM. Abnormal human haemoglobins. I. The comparison of normal human and sicklecell haemoglobins by ''fingerprinting''. 1958. Biochim Biophy Acta 1989; 1000: 151-157.

[2.] Ejindu VC, Hine AL, Mashayakhi M, Shorvon PJ, Misra RR. Musculoskeletal manifestations of

sickle cell disease. Radiographics 2007; 27: 1005-1021. doi:10.1148/rg.274065142.


[3.] Neonto MG, Guilloud-Bataille M, Beauvis P, et al. Acute clinical events in 299 homozygous sickle cell patients living in France. Eur J Hematol 2000; 65: 155-164. doi:10.1034/j.1600-0609.2000.90210.x.

[4.] Boher S. Fracture complicating bone infarcts and/or osteomyelitis in sickle cell disease. Clin Radiol 1971; 22: 83-88. doi:10.1016/S0009-9260(71)80020-X.

[5.] Ganesh A, William RR, Mitra S, Yanamadala S, Hussein SS. Orbital involvement in sickle cells disease: a report of five cases and review literature. Eye 2001; 15: 774-780. doi:10.1038/eye.2001.248. PMid:11827001.

[6.] Emodi JI, Okoy IJ. Vertebral bone collapse in sickle cell disease a report of two cases. East African J 2001; 78: 445-446.

[7.] Adekile AD, Gupta R, Yacoub F, Sinan T, Al-Bloushi M, Haider MZ. Avascular necrosis of the hip in children with sickle cell disease and high Hb F: magnetic resonance imaging findings and influence of a-thalassemia trait. Acta Haematol 2001; 105: 27-31. doi:10.1159/000046529. PMid:11340250.

[8.] Almeida A, Roberts I. Bone involvement in sickle cell disease. Br J Haematol 2005; 129: 482-490. doi:10.1111/j.1365-2141.2005.05476.x. PMid:15877730.

[9.] Kim SK, Mille JH. Natural history and distribution of bone and bone marrow infarction in sickle hemoglobinopathies. J Nuclear Med 2002; 43: 896-900.

[10.] Lafforgue P. Pathophysiology and natural history of avascular necrosis of bone. Joint Bone Spin 2006; 73: 500-507. doi:10.1016/j.jbspin.2006.01.025.

[11.] Akinyoola AL, Adediran IA, Asaleye CM, Bolarinwa AR. Risk factors for osteonecrosis of the femoral head in patients with sickle cell disease. Int Orthop 2009; 33: 923-926. doi:10.1007/s00264-008-0584-1. PMid:18633612.

[12.] Keeley K, Buchanan GR. Acute infarction of long bones in children with sickle cell anemia. J Pediatr 1982; 101: 170-175. PMid:7097407.

[13.] Burnett MW, Bass JW, Cook BA. Etiology of osteomyelitis complicating sickle cell disease. Pediatrics 1998; 101: 296-297. doi:10.1542/peds.101.2.296. PMid:9445507.

[14.] Chambers JB, Forsythe DA, Bertrand SL, Iwinski HJ, Steflik DE. Retrospective review of osteoarticular infections in a pediatric sickle cell age group. J Pediatr Orthopaedics 2000; 20: 682-685. doi:10.1097/01241398-200009000-00025.

[15.] Epps Jr, H, Bryant III, DD, Coles MJM, Castro O. Osteomyelitis in patients who have sickle-cell disease. Diagnosis and management. J Bone Joint Surg Series A 1991; 73: 1281-1294.

[16.] Sarrai M, Duroseau H, D'Augustine J, Moktan S, Bellevue R. Bone mass density in adults with sickle cell disease. Br J Haematol 2007; 136: 666-672. doi:10.1111/j.1365-2141.2006.06487.x. PMid:17223909.

[17.] Miller RG, Segal JB, Ashar BH, et al. High prevalence and correlates of low bone mineral density in young adults with sickle cell disease. Am J Hematol 2006; 81: 236-241. doi:10.1002/ajh.20541. PMid:16550513.

[18.] Buison AM, Kawchak DA, Schall JI, et al. Bone area and bone mineral content deficits in children with sickle cell disease. Pediatrics 2005; 116: 943-949. doi:10.1542/peds.2004-2582. PMid:16199706.

[19.] Serarslan Y, Kalaci A, Ozkan C, Dogramaci Y, Fokluk C, Yanat AN. Morphometry of the thoracolumbar vertebrae in sickle cell disease. J Clin Neurosci 2010; 17: 182-186. doi:10.1016/j.jocn.2009.05.010. PMid:20006508.

[20.] Baldanzi G, Traina F, Neto JFM, Santos AO, Ramos CD, Saad STO. Low bone mass density is associated with hemolysis in Brazilian patients with sickle cell disease. Clinics 2011; 66: 801-805. doi:10.1590/S1807-59322011000500015. PMid:21789383.

[21.] Fung EB, Harmatz PR, Milet M, et al. Fracture prevalence and relationship to endocrinopathy in iron overloaded patients with sickle cell disease and thalassemia. Bone 2008; 43: 162-168. doi:10.1016/j.bone.2008.03.003. PMid:18430624.

[22.] Yamasaki K, Hagiwara H. Excess iron inhibits osteoblast metabolism. Toxicol Lett 2009; 191: 211-215. doi:10.1016/j.toxlet.2009.08.023. PMid:19735707.

[23.] Arlet JB, Courbebaisse M, Chatellier G, et al. Relationship between vitamin D deficiency and bone fragility in sickle cell disease: a cohort study of 56 adults. Bone 2013; 52: 206-211. doi:10.1016/j.bone.2012.10.005. PMid:23072921.

[24.] Chapelon E, Garabedian M, Brousse V, Souberbielle JC, Bresson JL, de Montalembert M. Osteopenia and vitamin D deficiency in children with sickle cell disease. Eur J Haematol 2009; 83: 572-578. doi:10.1111/j.1600-0609.2009.01333.x. PMid:19682065.

[25.] Adewoye AH, Chen TC, Ma Q, et al. Sickle cell bone disease: response to vitamin D and calcium. Am J Hematol 2008; 83: 271-274. doi:10.1002/ajh.21085. PMid:17924548.

[26.] Piehl FC, Davis RJ, Prugh SI. Osteomyelitis in sickle cell disease. J Pediatr Orthop 1993; 13: 225-227. PMid:8459016.

[27.] al-Salem AH, Ahmed HA, Qaisaruddin S, al-Jam'a A, Elbashier AM, al-Dabbous I. Osteomyelitis and septic arthritis in sickle cell disease in the eastern province of Saudi Arabia. Int Orthop 1992; 16: 398-402. PMid:1473897.

[28.] Bahebeck J, Atangana R, Techa A, Monny-Lobe M, Sosso M, Hoffmeyer P. Relative rates and features of musculoskeletal complications in adult sicklers. Acta Orthop Belg 2004; 70: 107-111. PMid:15165010.

[29.] Ganguly A, Boswell W, Aniq H. Musculoskeletal manifestations of sickle cell anaemia: a pictorial review. Anemia 2011; doi:10.1155/2011/794283.

[30.] Al-Ghazaly J, Al-Dubai W, Abdullah M, Al-Mahagri A, Al-Gharasi L. Characteristics of sickle cell anemia in Yemen. Hemoglobin 2013; 37: 1-15. doi:10.3109/03630269.2012.751033. PMid:232 34436.

[31.] Knoit P, Schmittentecher PP, Dietz HC. Treatment of pathological fractures of long tubular bones in childhood using stable intra medullar nailing. Unfallchirurg 1996; 99: 401-414.

[32.] Rang M, Wenger D, Mubarak S. Fracture in special circumstances. In: Rang M, Pring ME, Wenger DR, editors. Rang's children's fractures. 3rd ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2005, p. 285-288.

[33.] Akinyoola AL, Orimolade EA, Yusuf MB. Pathological fracture of long bones in Nigerian children. J Clin Orthop 2008; 2: 475-479.

[34.] Ebong WW. Pathological fracture complicating long bone osteomyelitis in patients with sickle cells disease. J Pediatr Orthop 1986; 6: 177-181. doi:10.1097/01241398-198603000-00011. PMid:3958172.

[35.] Ebong WW. Acute osteomyelitis three years after a closed fracture in an adult with sickle cell anaemia; a case report. J Bone Joint Surg Am 1980; 62: 1196-1198. PMid:7430209.

[36.] Quraishi AH, Amath BSK. Woes of a sickler; a case report. Bombay Hosp J 2007: 49.

[37.] Al-Awamy B, Sumer T, Naeem MA, Al-Mouazan M. Pathological fracture of vertebral column in association with sickle cell anaemia in Saudi Arabia. Trop Geog Med 1986; 38: 421-424.

[38.] Bahebeck J, Ngowe Ngowe M, Monny Lobe M, Sosso M, Hoffmeyer P. [Stress fracture of the femur: a rare complication of sickle all disease]. Rev Chir Orthop Reparatrice Appar Mot 2002; 88: 816-818 (in French).

[39.] Sherman M. Pathogenesis of disintegration of hip in sickle cell anaemia. South Med J 1959; 52: 632-637. doi:10.1097/00007611-195906000-00002. PMid:13659156.

[40.] Buchanan G, Vichinsky E, Krishnamurti L, Shenoy S. Severe sickle cell disease--pathophysiology and therapy. Biol Blood Marrow Transplant 2010; 16(Suppl 1): S64-S67. doi:10.1016/j.bbmt.2009.10.001. PMid:19819341.

[41.] Sadat-Ali M, Geeranavar SS, AS-Suhaimi S. Orthopaedic complications in sickle cell disease a comparative study from two regions in Saudi Arabia. Int Orthop 1992; 16: 307-310. PMid:1428350.

[42.] Bennett OM, Namnyak SS. Bone and Joint manifestation of sickle cell anemia. J. Bone Joint Surg 1990; 72: 494-499.

[43.] Meddeb N, Gandoura N, Gandoura M, Sellami S. [Osteoarticular manifestations of sickle cells disease]. Tunis Med 2003; 81: 441-447 (in French).

[44.] Vichinsky EP, Neumayr LD, Haberkern C, et al. The perioperative complication rate of orthopedic surgery in sickle cell disease: report of the National Sickle Surgery Study Group. Am J Haematol 1999; 62: 129-138. doi:10.1002/(SICI)1096-8652(199911)62:3<129::AIDAJH1>3.0.CO;2-J.

Nawal Eltayeb Omer, Mohamed Azoz, Bader Eldin Idris, Limya Mustafa and Ahmed Abdelhai

El Imam El Mahdi University Faculty of Medicine, Kosti, White Nile, Sudan

Corresponding address: Dr Nawal Eltayeb Omer, MD, Assistant Professor, Department of Pathology, El Imam El Mahdi University Faculty of Medicine, Kosti, White Nile, 209, Sudan.


Date accepted for publication 6 June 2013
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Author:Omer, Nawal Eltayeb; Azoz, Mohamed; Idris, Bader Eldin; Mustafa, Limya; Abdelhai, Ahmed
Publication:Grand Rounds
Article Type:Case study
Geographic Code:6SUDA
Date:Jan 1, 2013
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