Abstract
Soft bone disease comes in many forms and may cause or coexist with spinal deformity. The poor bone quality may cause macrofractures or microfractures or plastic bone deformation creating a spinal deformity. Bracing is typically ineffective and the pressure from bracing creates secondary deformities of the chest wall. Surgery is complicated by the soft bone, which makes correction difficult from poor bone purchase and which bleeds if fractured. There are several strategies to minimize these problems, but some appear unavoidable with current knowledge and techniques. This chapter outlines some generalities that are discussed in more detail with the specific diseases.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Allgrove J (2002) Use of bisphosphonates in children and adolescents. J Pediatr Endocrinol Metab 15(Suppl 3):921–928
Arun R, Khazim R, Webb JK et al (2005) Scoliosis in association with infantile hypophosphatasia: a case study in two siblings. Spine 30:E471–E476
Astrom E, Jorulf H, Soderhall S (2007) Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta. Arch Dis Child 92:332–338
Ballenger CE, Swift TR, Leshner RT et al (1980) Myelopathy in mucopolysaccharidosis type II (Hunter syndrome). Ann Neurol 7:382–385
Barrack RL, Whitecloud TS, III, Skinner HB (1984) Spondylolysis after spinal instrumentation in osteogenesis imperfecta. South Med J 77:1453–1454
Basu PS, Hilali Noordeen MH, Elsebaie H (2001) Spondylolis-thesis in osteogenesis imperfecta due to pedicle elongation: report of two cases. Spine 1:26:E506–E509
Benson DR, Donaldson DH, Millar EA (1978) The spine in osteogenesis imperfecta. J Bone Joint Surg Am 60:925–929
Benson DR, Newman DC (1981) The spine and surgical treatment in osteogenesis imperfecta. Clin Orthop Relat Res 159:147–153
Bernstein AE, Warner GM (1983) Onset of anorexia nervosa after prolonged use of the Milwaukee brace. Psychosomatics 24(11):1033–1034
Bianchi ML (2005) How to manage osteoporosis in children. Best Pract Res Clin Rheumatol 19:991–1005
Blacksin MF, Pletcher BA, David M (1998) Osteogenesis imperfecta with joint contractures: Bruck syndrome. Pediatr Radiol 28:117–119
Brenner RE, Vetter U, Stoss H et al (1993) Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). Eur J Pediatr 152:505–508
Breslau-Siderius EJ, Engelbert RH, Pals G et al (1998) Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. J Pediatr Orthop B 7:35–38
Brunk M (1951) The importance of rickets in childhood as a cause of scoliosis in adult age. Acta Orthop Scand Suppl 9:3–114
Cheung MS, Glorieux FH, Rauch F (2007) Natural history of hyperplastic callus formation in osteogenesis imperfecta type V. J Bone Miner Res 22:1181–1186
Cristofaro RL, Hoek KJ, Bonnett CA et al (1979) Operative treatment of spine deformity in osteogenesis imperfecta. Clin Orthop Relat Res 40–48
Daivajna S, Jones A, Hossein Mehdian SM (2005) Surgical management of severe cervical kyphosis with myelopathy in osteogenesis imperfecta: a case report. Spine 1:30: E191–E194
Dalvie SS, Noordeen MH, Vellodi A (2001) Anterior instrumented fusion for thoracolumbar kyphosis in mucopolysac-charidosis. Spine 26:E539–E541
Dawson-Hughes B, Heaney RP, Holick MF et al (2005) Estimates of optimal vitamin D status. Osteoporos Int 16: 713–716
Ebara S, Kinoshita T, Yuzawa Y et al (2003) A case of mucopolysaccharidosis IV with lower leg paresis due to thoraco-lumbar  kyphoscoliosis. J Clin Neurosci 10:358–361
Engelbert RH, Gerver WJ, Breslau-Siderius LJ et al (1998) Spinal complications in osteogenesis imperfecta: 47 patients 1–16 years of age. Acta Orthop Scand 69:283–286
Engelbert RH, Uiterwaal CS, van der HA et al (2003) Scoliosis in children with osteogenesis imperfecta: influence of severity of disease and age of reaching motor milestones. Eur Spine J 12:130–134
Ferrera PC, Hayes ST, Triner WR (1995) Spinal cord concussion in previously undiagnosed osteogenesis imperfecta. Am J Emerg Med 13:424–426
Field RE, Buchanan JA, Copplemans MG et al (1994) Bone-marrow transplantation in Hurler’s syndrome. Effect on skeletal development. J Bone Joint Surg Br 76:975–981
Frater CJ, Murray IP, Calligeros D (1995) Multiple flexion-stress vertebral end-plate fractures. An osteogenesis imperfecta presentation. Clin Nucl Med 20:1055–1057
Gitelis S, Whiffen J, DeWald RL (1983) The treatment of severe scoliosis in osteogenesis imperfecta. Case report. Clin Orthop Relat Res 56–59
Glorieux FH (2000) Bisphosphonate therapy for severe osteogenesis imperfecta. J Pediatr Endocrinol Metab 13 (Suppl 2):989–992
Hanscom DA, Winter RB, Lutter L et al (1992) Osteogenesis imperfecta. Radiographic classification, natural history, and treatment of spinal deformities. J Bone Joint Surg Am 74:598–616
Harkey HL, Crockard HA, Stevens JM et al (1990) The operative management of basilar impression in osteogenesis imperfecta. Neurosurgery 27:782–786
Herman MJ, Pizzutillo PD (2005) Spondylolysis and spon-dylolisthesis in the child and adolescent: a new classification. Clin Orthop Relat Res 434:46–54
Holda ME, Ryan JR (1982) Hepatobiliary rickets. J Pediatr Orthop 2:285–287
Holick MF (2003) Vitamin D: a millenium perspective. J Cell Biochem 1:88:296–307
Holtgrewe JL, Kalen V (1986) Orthopaedic manifestations of the Lowe (oculocerebrorenal) syndrome. J Pediatr Orthop 6:165–171
Ishikawa S, Kumar SJ, Takahashi HE et al (1996) Vertebral body shape as a predictor of spinal deformity in osteogenesis imperfecta. J Bone Joint Surg Am 78 :212–219
James D, Crockard HA (1991) Surgical access to the base of skull and upper cervical spine by extended maxillotomy. Neurosurgery 29:411–416
Janus GJ, Finidori G, Engelbert RH et al (2000) Operative treatment of severe scoliosis in osteogenesis imperfecta: results of 20 patients after halo traction and posterior spon-dylodesis with instrumentation. Eur Spine J 9:486–491
Janus GJ, Engelbert RH, Beek E et al (2003) Osteogenesis imperfecta in childhood: MR imaging of basilar impression. Eur J Radiol 47:19–24
Juskeliene V, Magnus P, Bakketeig LS et al (1996) Prevalence and risk factors for asymmetric posture in preschool children aged 6–7 years. Int J Epidemiol 25:1053–1059
Kachur E, Del MR (2000) Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation. Neurosurgery 47:223–228
Kalteis T, Schubert T, Caro WC et al (2005) Arthroscopic and histologic findings in Morquio’s syndrome. Arthroscopy 21:233–237
Kaso G, Varju C, Doczi T (2004) Multiple vertebral fractures in osteogenesis imperfecta treated by vertebroplasty. Case illustration. J Neurosurg Spine 1:237
Khosla S (2001) Minireview: the OPG/RANKL/RANK system. Endocrinology 142:5050–5055
Kok DJ, Uiterwaal CS, Van Dongen AJ et al (2003) The interaction between silence type and BMD in osteogenesis imperfecta. Calcif Tissue Int 73:441–445
Krassas GE (2000) Idiopathic juvenile osteoporosis. Ann N Y Acad Sci 900:409–412
Kulkarni M V, Williams JC, Yeakley JW et al (1987) Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. Magn Reson Imaging 5:317–323
Land C, Rauch F, Munns CF et al (2006) Vertebral mor-phometry in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate treatment. Bone 39:901–906
Lowing K, Astrom E, Oscarsson KA et al (2007) Effect of intravenous pamidronate therapy on everyday activities in children with osteogenesis imperfecta. Acta Paediatr 96: 1180–1183
Marchetti PG, Bartolozzi P (1997) Classification of spon-dylolisthesis as a guideline for treatment. In: DeWald RL, Bridwell KH (eds) The textbook for spinal surgery, 2nd edn. Lippincott-Raven, Philadelphia, pp 1211–12154
Mehler PS (2003) Osteoporosis in anorexia nervosa: prevention and treatment. Int J Eat Disord 33:113–126
Melchior R, Zabel B, Spranger J et al (2005) Effective paren-teral clodronate treatment of a child with severe juvenile idio-pathic osteoporosis. Eur J Pediatr 164:22–27
Meyer S, Villarreal M, Ziv I (1986) A three-level fracture of the axis in a patient with osteogenesis imperfecta. A case report. Spine 505–506
Moorefield WG, Jr., Miller GR (1980) Aftermath of osteo-genesis imperfecta: the disease in adulthood. J Bone Joint Surg Am 62:113–119
Nakamura M, Yone K, Yamaura I et al (2002) Treatment of craniocervical spine lesion with osteogenesis imperfecta: a case report. Spine 27:E224–E227
Oppenheim WL (1995) The spine in osteogenesis imperfecta: a review of treatment. Connect Tissue Res 31:S59–S63
Osebold WR, Yamamoto SK, Hurley JH (1992) The variability of response of scoliotic spines to segmental spinal instrumentation. Spine 17:1174–1179
Parsons VJ, Hughes DG, Wraith JE (1996) Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter’s syndrome (mucopolysaccharidoses type II). Clin Radiol 51:719–723
Pehrsson K, Larsson S, Oden A et al (1992) Long-term follow-up of patients with untreated scoliosis. A study of mortality, causes of death, and symptoms. Spine 17:1091–1096
Pinches E, Thompson D, Noordeen H et al (2004) Fourth and sixth cranial nerve injury after halo traction in children: a report of two cases. J AAPOS 8:580–585
Pizzutillo PD, Osterkamp JA, Scott CI Jr et al (1989) Atlantoaxial instability in mucopolysaccharidosis type VII. J Pediatr Orthop 9:76–78
Rauch F, Munns C, Land C et al (2006) Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab 91: 1268–1274
Rigante D, Antuzzi D, Ricci R et al (1999) Cervical myel-opathy in mucopolysaccharidosis type IV. Clin Neuropathol 18:84–86
Ring ND, Nelham RL, Pearson FA (1978) Moulded supportive seating for the disabled. Prosthet Orthot Int 2:30–34
Roberts W, Henson LC (1995) Anesthesia for scoliosis: dwarfism and congenitally absent odontoid process. AANA J 63:332–337
Sawin PD, Menezes AH (1997) Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. J Neurosurg 86:950–960
Semenza GL, Pyeritz RE (1988) Respiratory complications of mucopolysaccharide storage disorders. Medicine (Baltimore) 67:209–219
Shaw NJ, Boivin CM, Crabtree NJ (2000) Intravenous pami dronate in juvenile osteoporosis. Arch Dis Child 83: 143–145
Shore RM, Langman CB, Poznanski AK (2000) Lumbar and radial bone mineral density in children and adolescents with X-linked hypophosphatemia: evaluation with dual X-ray absorptiometry. Skeletal Radiol 29:90–93
Sjogren P, Pedersen T, Steinmetz H (1987) Mucopolysacchari-doses and anaesthetic risks. Acta Anaesthesiol Scand 31: 214–218
Smith FM, Latchford G, Hall RM et al (2002) Indications of disordered eating behaviour in adolescent patients with idio-pathic scoliosis. J Bone Joint Surg Br 84:392–394
Sostrin RD, Hasso AN, Peterson DI et al (1977) Myelographic features of mucopolysaccharidoses: a new sign. Radiology 125:421–424
Speiser PW, Clarson CL, Eugster EA et al (2005) Bisphosphonate treatment of pediatric bone disease. Pediatr Endocrinol Rev 3:87–96
Sperry K (1989) Fatal intraoperative hemorrhage during spinal fusion surgery for osteogenesis imperfecta. Am J Forensic Med Pathol 10:54–59
Taccone A, Tortori DP, Marzoli A et al (1993) Mucopolysaccharidosis: thickening of dura mater at the craniocervical junction and other CT/MRI findings. Pediatr Radiol 23:349–352
Tamaki N, Kojima N, Tanimoto M et al (1987) Myelopathy due to diffuse thickening of the cervical dura mater in Maroteaux-Lamy syndrome: report of a case. Neurosurgery 21:416–419
Tandon V, Williamson JB, Cowie RA et al (1996) Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br 78:938–944
Thorne JA, Javadpour M, Hughes DG et al (2001) Craniovertebral abnormalities in Type VI mucopolysaccha-ridosis (Maroteaux-Lamy syndrome). Neurosurgery 48: 849–852
Tolboom N, Cats EA, Helders PJ et al (2004) Osteogenesis imperfecta in childhood: effects of spondylodesis on functional ability, ambulation and perceived competence. Eur Spine J 13:108–113
Topouchian V, Finidori G, Glorion C et al (2004) Posterior spinal fusion for kyphoscoliosis associated with osteogenesis imperfecta: long-term results. Rev Chir Orthop Reparatrice Appar Mot 90:525–532
Vijay S, Wraith JE (2005) Clinical presentation and follow-up of patients with the attenuated phenotype of mucopoly-saccharidosis type I. Acta Paediatr 94:872–877
Vitale MG, Matsumoto H, Kessler MW et al (2007) Osteogenesis imperfecta: determining the demographics and the predictors of death from an inpatient population. J Pediatr Orthop 27:228–232
Wald SL, Schmidek HH (1984) Compressive myelopathy associated with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). Neurosurgery 14:83–88
Warren MP, Brooks-Gunn J, Hamilton LH et al (1986) Scoliosis and fractures in young ballet dancers. Relation to delayed menarche and secondary amenorrhea. N Engl J Med 314:1348–1353
Watanabe G, Kawaguchi S, Matsuyama T et al (2007) Correlation of scoliotic curvature with Z-score bone mineral density and body mass index in patients with osteogenesis imperfecta. Spine 32:E488–E494
Whyte MP, Kurtzberg J, McAlister WH et al (2003) Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 18:624–636
Widmann RF, Bitan FD, Laplaza FJ et al (1999) Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine 24:1673–1678
Wiltse LL, Newman PH, Macnab I (1976) Classification of spondylolisis and spondylolisthesis. Clin Orthop Relat Res 117:23–29
Yamamoto H (1966) Experimental scoliosis in rachitic bipedal rats. Tokushima J Exp Med 13:1–34
Yong-Hing K, MacEwen GD (1982) Scoliosis associated with osteogenesis imperfecta. J Bone Joint Surg Br 64: 36–43
Ziv I, Rang M, Hoffman HJ (1983) Paraplegia in osteogen-esis imperfecta. A case report. J Bone Joint Surg Br 65: 184–185
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2011 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Sanders, J.O., Armet, K., Bukata, S. (2011). Spinal Deformity in Metabolic Diseases. In: Akbarnia, B.A., Yazici, M., Thompson, G.H. (eds) The Growing Spine. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-85207-0_14
Download citation
DOI: https://doi.org/10.1007/978-3-540-85207-0_14
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-85206-3
Online ISBN: 978-3-540-85207-0
eBook Packages: MedicineMedicine (R0)