Spinal involvement in mucopolysaccharidoses: a review
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- 作者：Antonio Leone (1)
Donato Rigante (2)
Daniele Zaccaria Amato (1)
Roberto Casale (1)
Luigi Pedone (1)
Nicola Magarelli (1)
Cesare Colosimo (1)
1. Department of Radiological Sciences ; Catholic University ; School of Medicine ; Largo A. Gemelli ; 1-00168 ; Rome ; Italy
2. Institute of Pediatrics ; Catholic University ; School of Medicine ; Largo A. Gemelli ; 1-00168 ; Rome ; Italy - 关键词：Mucopolysaccharidoses ; Spine ; Radiography ; CT ; MR imaging
- 刊名：Child's Nervous System
- 出版年：2015
- 出版时间：February 2015
- 年：2015
- 卷：31
- 期：2
- 页码：203-212
- 全文大小：836 KB
- 参考文献：1. Yanagishita M (1993) Function of proteoglycans in the extracellular matrix. Acta Pathol Jpn 43(6):283鈥?93
2. Lehman TJA, Miller N, Norquist B, Underhill L, Keutzer J (2011) Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford) 50(5):41鈥?8 <a class="external" href="http://dx.doi.org/10.1093/rheumatology/ker390" target="_blank" title="It opens in new window">CrossRefa>
3. Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill Medical Publishing Division, New York, pp 3421鈥?452
4. Muenzer J (2004) The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 144(5 suppl):S27鈥揝34 <a class="external" href="http://dx.doi.org/10.1016/j.jpeds.2004.01.052" target="_blank" title="It opens in new window">CrossRefa>
5. Clarke LA (2008) The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol Med 10:e1. doi:
6. Hunter C (1917) A rare disease in two brothers. Proc R sac Med 10:104鈥?16
7. Brante G (1952) Gargoylism; a mucopolysaccharidosis. Scand J Clin Lab Invest 4:43鈥?6 <a class="external" href="http://dx.doi.org/10.3109/00365515209060631" target="_blank" title="It opens in new window">CrossRefa>
8. Dorfman A, Lorincz A (1957) Occurrence of urinary acid mucopolysaccharides in the Hurler Syndrome. Proc Natl Acad Sci U S A 43:443鈥?46 <a class="external" href="http://dx.doi.org/10.1073/pnas.43.6.443" target="_blank" title="It opens in new window">CrossRefa>
9. Monta帽o AM, Tomatsu S, Gottesman GS, Smith M, Orii T (2007) International Morquio A registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis 30(2):165鈥?74 <a class="external" href="http://dx.doi.org/10.1007/s10545-007-0529-7" target="_blank" title="It opens in new window">CrossRefa>
10. Giugliani R (2012) Mucopolysacccharidoses: from understanding to treatment, a century of discoveries. Genet Mol Biol 35(4 Suppl):924鈥?31 <a class="external" href="http://dx.doi.org/10.1590/S1415-47572012000600006" target="_blank" title="It opens in new window">CrossRefa>
11. Rigante D (2007) Gargoyle-like features in lysosomal diseases involving glycosaminoglycans. Childs Nerv Syst 23:365鈥?66 <a class="external" href="http://dx.doi.org/10.1007/s00381-007-0301-1" target="_blank" title="It opens in new window">CrossRefa>
12. Zafeiriou DI, Batzios SP (2013) Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol 34(1):5鈥?3 <a class="external" href="http://dx.doi.org/10.3174/ajnr.A2832" target="_blank" title="It opens in new window">CrossRefa>
13. Lachman R, Martin KW, Castro S, Basto MA, Adams A, Teles EL (2010) Radiological and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med 3(2):109鈥?18
14. Rasalkar DD, Chu WC, Hui J, Chu CM, Paunipagar BK, Li CK (2011) Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. Br J Radiol 84(1001):469鈥?77 <a class="external" href="http://dx.doi.org/10.1259/bjr/59197814" target="_blank" title="It opens in new window">CrossRefa>
15. Solanki GA, Martin KW, Theroux MC, Lampe C, White KK, Shediac R, Lampe CG, Beck M, Mackenzie WG, Hendriksz CJ, Harmatz PR (2013) Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis 36:339鈥?55 <a class="external" href="http://dx.doi.org/10.1007/s10545-013-9586-2" target="_blank" title="It opens in new window">CrossRefa>
16. Lipson SJ (1977) Dysplasia of the odontoid process in Morquio's syndrome causing quadriparesis. J Bone Joint Surg Am 59(3):340鈥?44
17. Taccone A, Tortori Donati P, Marzoli A, Dell鈥橝cqua A, Gatti R, Leone D (1993) Mucopolysaccharidosis: thickening of dura mater at the craniocervical junction and other CT/MRI findings. Pediatr Radiol 23:349鈥?52 <a class="external" href="http://dx.doi.org/10.1007/BF02011954" target="_blank" title="It opens in new window">CrossRefa>
18. Piccirilli CB, Chadduck WM (1996) Cervical kyphotic myelopathy in a child with Morquio syndrome. Childs Nerv Syst 12:114鈥?16 <a class="external" href="http://dx.doi.org/10.1007/BF00819510" target="_blank" title="It opens in new window">CrossRefa>
19. Ebara S, Kinoshita T, Yuzawa Y, Takahashi J, Nakamura I, Hirabayashi H, Uozumi R, Kimura M, Takaoka K (2003) A case of mucopolysaccharidosis IV with lower leg paresis due to thoraco-lumbar kyphoscoliosis. J Clin Neurosci 10:358鈥?61 <a class="external" href="http://dx.doi.org/10.1016/S0967-5868(03)00033-X" target="_blank" title="It opens in new window">CrossRefa>
20. Thorne JA, Javadpour M, Hughes DG, Wraith E, Cowie RA (2001) Craniovertebral abnormalities in type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). Neurosurgery 48(4):849鈥?52
21. Vougioukas VI, Berlis A, Kopp MV, Korinthenberg R, Spreer J, van Velthoven V (2001) Neurosurgical interventions in children with Maroteaux-Lamy syndrome: case report and review of the literature. Pediatr Neurosurg 35:35鈥?8 <a class="external" href="http://dx.doi.org/10.1159/000050383" target="_blank" title="It opens in new window">CrossRefa>
22. Miebach E, Church H, Cooper A, Mercer J, Tylee K, Wynn RF, Wraith JE (2011) The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome). J Inherit Metab Dis 34:755鈥?61 <a class="external" href="http://dx.doi.org/10.1007/s10545-011-9309-5" target="_blank" title="It opens in new window">CrossRefa>
23. Manara R, Priante E, Grimaldi M, Santoro L, Astarita L, Barone R, Concolino D, Di Rocco M, Donati MA, Fecarotta S, Ficcadenti A, Fiumara A, Furlan F, Giovannini I, Lilliu F, Mardari R, Polonara G, Procopio E, Rampazzo A, Rossi A, Sanna G, Parini R, Scarpa M (2011) Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis 34:763鈥?80 <a class="external" href="http://dx.doi.org/10.1007/s10545-011-9317-5" target="_blank" title="It opens in new window">CrossRefa>
24. 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鈥?23 <a class="external" href="http://dx.doi.org/10.1016/S0009-9260(96)80246-7" target="_blank" title="It opens in new window">CrossRefa>
25. White KK, Karol LA, White DR, Hale S (2011) Musculoskeletal manifestations of Sanfilippo syndrome (mucopolysaccharidosis type III. J Pediatr Orthop 31(5):594鈥?98 <a class="external" href="http://dx.doi.org/10.1097/BPO.0b013e31821f5ee9" target="_blank" title="It opens in new window">CrossRefa>
26. Dickerman RD, Colle KO, Bruno CA Jr, Schneider SJ (2004) Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma. Spine (Phila Pa 1976) 29:92鈥?4 <a class="external" href="http://dx.doi.org/10.1097/01.BRS.0000112074.48566.FA" target="_blank" title="It opens in new window">CrossRefa>
27. Field RE, Buchanan JA, Copplemans MG, Aichroth PM (1994) Bone-marrow transplantation in Hurler's syndssssrome. Effect on skeletal development. J Bone Joint Surg (Br) 76(6):975鈥?81
28. Vinchon M, Cotten A, Clarisse J, Chiki R, Christiaens JL (1995) Cervical myelopathy secondary to Hunter syndrome in an adult. AJNR Am J Neuroradiol 16:1402鈥?403
29. Langer LO Jr, Carey LS (1966) The roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford's disease). Am J Roentgenol Radium Ther Nucl Me 97(1):1鈥?0 <a class="external" href="http://dx.doi.org/10.2214/ajr.97.1.1" target="_blank" title="It opens in new window">CrossRefa>
30. Swischuk LE (1970) The beaked, notched, or hooked vertebra: its significance in infants and young children. Radiology 95(3):661鈥?64 <a class="external" href="http://dx.doi.org/10.1148/95.3.661" target="_blank" title="It opens in new window">CrossRefa>
31. Tandon V, Williamson JB, Cowie RA, Wraith JE (1996) Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg (Br) 78(6):938鈥?44 <a class="external" href="http://dx.doi.org/10.1302/0301-620X78B6.1279" target="_blank" title="It opens in new window">CrossRefa>
32. Berlemann U, Jeszenszky DJ, Buhler DW, Harms J (1999) Mechanism of retrolisthesis in the lower lumbar spine: a radiographic study. Acta Orthop Belg 65:472鈥?77
33. Leone A, Guglielmi G, Cassar-Pullicino VN, Bonomo L (2007) Lumbar intervertebral instability: a review. Radiology 245:62鈥?7, Review <a class="external" href="http://dx.doi.org/10.1148/radiol.2451051359" target="_blank" title="It opens in new window">CrossRefa>
34. Levin TL, Berdon WE, Lachman RS, Anyane-Yeboa K, Ruzal-Shapiro C, Roye DP (1997) Lumbar gibbus in storage diseases and bone dysplasias. Pediatr Radiol 27:289鈥?94 <a class="external" href="http://dx.doi.org/10.1007/s002470050131" target="_blank" title="It opens in new window">CrossRefa>
35. Solanski GA, Lo WB, Hendriksz CJ (2013) MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome). J Inherit Metab Dis 36(2):329鈥?37 <a class="external" href="http://dx.doi.org/10.1007/s10545-013-9585-3" target="_blank" title="It opens in new window">CrossRefa>
36. White AA III, Panjabi MM (1984) The role of stabilization in the treatment of cervical spine injuries. Spine 9:512鈥?22 <a class="external" href="http://dx.doi.org/10.1097/00007632-198407000-00021" target="_blank" title="It opens in new window">CrossRefa>
37. Boden SD, Dodge LD, Bohlman HH, Rechtine GR (1993) Rheumatoid arthritis of the cervical spine. A long-term analysis with predictors of paralysis and recovery. J Bone Joint Surg Am 75:1282鈥?297
38. Leone A, Costantini A, Visocchi M, Vestito A, Colelli P, Magarelli N, Colosimo C, Bonomo L (2012) The role of imaging in the pre- and postoperative evaluation of posterior occipito-cervical fusion. Radiol Med 117(4):636鈥?53 <a class="external" href="http://dx.doi.org/10.1007/s11547-011-0746-x" target="_blank" title="It opens in new window">CrossRefa>
39. Harris JH Jr, Mirvis SE (1996) Injuries of diverse or poorly understood mechanisms. In: Harris JH Jr, Mirvis SE (eds) The radiology of acute cervical spine trauma, 3rd edn. Williams & Wilkins, Baltimore, pp 422鈥?74
40. Hughes DG, Chadderton RD, Cowie RA, Wraith JE, Jenkins JP (1997) MRI of the brain and craniocervical junction in Morquio's disease. Neuroradiology 39(5):381鈥?85 <a class="external" href="http://dx.doi.org/10.1007/s002340050429" target="_blank" title="It opens in new window">CrossRefa>
41. Arnoldi CC, Brodsky AE, Canchoix J (1976) Lumbar spinal stenosis and nerve root entrapment syndromes. Definition and classification. Clin Orthop 115:4鈥?
42. Rigante D, Antuzzi D, Ricci R, Segni G (1999) Cervical myelopathy in mucopolysaccharidosis type IV. Clin Neuropathol 18:84鈥?6
43. Dumoulin CL, Hart HR Jr (1986) Magnetic resonance angiography. Radiology 161:717鈥?20 <a class="external" href="http://dx.doi.org/10.1148/radiology.161.3.3786721" target="_blank" title="It opens in new window">CrossRefa>
44. Melhem ER, Mori S, Mukundan G, Kraut MA, Pomper MG, van Zijl PC (2002) Diffusion tensor MR imaging of the brain and white matter tractography. AJR Am J Roentgenol 178(1):3鈥?6 <a class="external" href="http://dx.doi.org/10.2214/ajr.178.1.1780003" target="_blank" title="It opens in new window">CrossRefa>
45. Andre JB, Bammer R (2010) Advanced diffusion-weighted magnetic resonance imaging techniques of the human spinal cord. Top Magn Reson Imaging 21(6):367鈥?78 <a class="external" href="http://dx.doi.org/10.1097/RMR.0b013e31823e65a1" target="_blank" title="It opens in new window">CrossRefa>
46. Jacobs MA, Ibrahim TS, Ouwerkerk R (2007) AAPM/RSNA physics tutorials for residents: MR imaging: brief overview and emerging applications). Radiographics 27(4):1213鈥?229 <a class="external" href="http://dx.doi.org/10.1148/rg.274065115" target="_blank" title="It opens in new window">CrossRefa>
47. Lee SK, Kim DI, Kim J, Kim DJ, Kim HD, Kim DS, Mori S (2005) Diffusion-tensor MR imaging and fiber tractography: a new method of describing aberrant fiber connections in developmental CNS anomalies. Radiographics 25:53鈥?5 <a class="external" href="http://dx.doi.org/10.1148/rg.251045085" target="_blank" title="It opens in new window">CrossRefa>
48. Mackenzie WG, Dhawale AA, Demczko MM, Ditro C, Rogers KJ, Bober MB, Campbell JW, Grissom LE (2013) Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective? J Pediatr Orthop 33:91鈥?8 <a class="external" href="http://dx.doi.org/10.1097/BPO.0b013e318279c51f" target="_blank" title="It opens in new window">CrossRefa>
49. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage diseases. JAMA 281:249鈥?54 <a class="external" href="http://dx.doi.org/10.1001/jama.281.3.249" target="_blank" title="It opens in new window">CrossRefa>
50. Young EP (1992) Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi. J Inherit Metab Dis 15:224鈥?30 <a class="external" href="http://dx.doi.org/10.1007/BF01799636" target="_blank" title="It opens in new window">CrossRefa>
51. Filocamo M, Morrone A (2011) Lysosomal storage disorders: molecular basis and laboratory testing. Hum Genomics 5(3):156鈥?69 <a class="external" href="http://dx.doi.org/10.1186/1479-7364-5-3-156" target="_blank" title="It opens in new window">CrossRefa>
52. Caillaud C (2014) Principles of therapeutic approaches for mucopolysaccharidoses. Arch Pediatr 21(1):S39鈥揝45 <a class="external" href="http://dx.doi.org/10.1016/S0929-693X(14)72258-4" target="_blank" title="It opens in new window">CrossRefa>
53. Noh H, Lee JI (2014) Current and potential therapeutic strategies for mucopolysaccharidoses. J Clin Pharm Ther 39(3):215鈥?24 <a class="external" href="http://dx.doi.org/10.1111/jcpt.12136" target="_blank" title="It opens in new window">CrossRefa>
54. Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Cleary M, Gucsavas-Calikoglu M, Puga AC, Shinawi M, Ulbrich B, Vijayaraghavan S, Wendt S, Conway AM, Rossi A, Whiteman DA, Kimura A (2011) Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med 13:95鈥?01 <a class="external" href="http://dx.doi.org/10.1097/GIM.0b013e3181fea459" target="_blank" title="It opens in new window">CrossRefa>
55. Mu帽oz-Rojas MV, Horovitz DD, Jardim LB (2010) Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. Mol Genet Metab 99(4):346鈥?50 <a class="external" href="http://dx.doi.org/10.1016/j.ymgme.2009.11.008" target="_blank" title="It opens in new window">CrossRefa>
56. Visocchi M, Di Rocco F, Meglio M (2003) Craniocervical junction instability: instrumentation and fusion with titanium rods and sublaminar wires. Effectiveness and failures in personal experience. Acta Neurochir (Wien) 145(4):265鈥?72 <a class="external" href="http://dx.doi.org/10.1007/s00701-002-1067-6" target="_blank" title="It opens in new window">CrossRefa>
57. Menezes AH (2008) Decision making. Childs Nerv Syst 24:1147鈥?153 <a class="external" href="http://dx.doi.org/10.1007/s00381-008-0604-x" target="_blank" title="It opens in new window">CrossRefa>
58. Wang C, Yan M, Zhou HT, Wang SL, Dang GT (2006) Open reduction of irreducible atlantoaxial dislocation by transoral anterior atlantoaxial release and posterior internal fixation. Spine (Phila Pa 1976) 31(11):E306鈥揈313 <a class="external" href="http://dx.doi.org/10.1097/01.brs.0000217686.80327.e4" target="_blank" title="It opens in new window">CrossRefa>
59. Ashraf J, Crockard HA, Ransford AO, Stevens JM (1991) Transoral decompression and posterior stabilization in Morquio's disease. Arch Dis Child 66(11):1318鈥?321 <a class="external" href="http://dx.doi.org/10.1136/adc.66.11.1318" target="_blank" title="It opens in new window">CrossRefa>
60. Ransford AO, Crockard HA, Stevens JM, Modaghegh S (1996) Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experience. J Bone Joint Surg 78:307鈥?13
61. McMaster MJ, Singh H (2001) The surgical management of congenital kyphosis and kyphoscoliosis. Spine 26:2146鈥?154 <a class="external" href="http://dx.doi.org/10.1097/00007632-200110010-00021" target="_blank" title="It opens in new window">CrossRefa> - 刊物类别：Medicine
- 刊物主题：Medicine & Public Health
Neurosurgery
Neurosciences - 出版者：Springer Berlin / Heidelberg
- ISSN：1433-0350
文摘
Background Mucopolysaccharidoses (MPS) represent a group of inheritable lysosomal storage diseases caused by mutations in the genes coding for enzymes involved in catabolism of different glycosaminoglycans (GAGs). They are clinically heterogeneous multisystemic diseases, often involving the spine. Bony abnormalities of the spine included in the so-called dysostosis multiplex and GAG deposits in the dura mater and supporting ligaments can result in spinal cord compression, which can lead to compressive myelopathy. Spinal involvement is a major cause of morbidity and mortality in some MPS (e.g., MPS IVA, VI, and I), and early radiological diagnosis is critical in preventing or arresting neurological deterioration and loss of function. Discussion Management of MPS, however, requires a multidisciplinary approach because of the multiorgan nature of the disease. Indeed in order to appreciate the relevance and nuances of each other's specialty, radiologists and clinicians need to have a background of common knowledge, rather than a merely compartmentalized point of view. In the interest of the management of spinal involvement in MPS, this review article aims on one hand to provide radiologists with important clinical knowledge and on the other hand to equip clinicians with relevant radiological semiotics.