Journal of Korean Neurosurgical Society

The Korean Neurosurgical Society (대한신경외과학회)
권호 표지
DOI QR코드

DOI QR Code

Physiological Changes and Clinical Implications of Syndromic Craniosynostosis

  • Sakamoto, Hiroaki (Department of Pediatric Neurosurgery, Osaka City General Hospital) ;
  • Matsusaka, Yasuhiro (Department of Pediatric Neurosurgery, Osaka City General Hospital) ;
  • Kunihiro, Noritsugu (Department of Pediatric Neurosurgery, Osaka City General Hospital) ;
  • Imai, Keisuke (Department of Plastic and Reconstructive Surgery, Osaka City General Hospital)
  • Received : 2016.01.26
  • Accepted : 2016.03.15
  • Published : 2016.05.01
Download PDF
⟨ Previous Next ⟩

Abstract

Syndromic craniosynostosis has severe cranial stenosis and deformity, combined with hypoplastic maxillary bone and other developmental skeletal lesions. Among these various lesions, upper air way obstruction by hypoplastic maxillary bone could be the first life-threatening condition after birth. Aggressive cranial vault expansion for severely deformed cranial vaults due to multiple synostoses is necessary even in infancy, to normalize the intracranial pressure. Fronto-orbital advancement (FOA) is recommended for patients with hypoplastic anterior part of cranium induced by bicoronal and/or metopic synostoses, and posterior cranial vault expansion is recommended for those with flattening of the posterior part of the cranium by lambdoid synostosis. Although sufficient spontaneous reshaping of the cranium can be expected by expansive cranioplasty, keeping the cranial bone flap expanded sufficiently is often difficult when the initial expansion is performed during infancy. So far distraction osteogenesis (DO) is the only method to make it possible and to provide low rates of re-expansion of the cranial vault. DO is quite beneficial for both FOA and posterior cranial vault expansion, compared with the conventional methods. Associated hydrocephalus and chronic tonsillar herniation due to lambdoid synostosis can be surgically treatable. Abnormal venous drainages from the intracranial space and air way obstruction should be always considered at any surgical procedures. Neurosurgeons have to know well about the managements not only of the deformed cranial vault and the associated brain lesions but also of other multiple skeletal lesions associated with syndromic craniosynostosis, to improve treatment outcome.

Keywords

References

  1. Addo NK, Javadpour S, Kandasamy J, Sillifant P, May P, Sinha A : Central sleep apnea and associated Chiari malformation in children with syndromic craniosynostosis : treatment and outcome data from a supraregional national craniofacial center. J Neurosurg Pediatr 11 : 296-301, 2013 https://doi.org/10.3171/2012.11.PEDS12297
  2. Akai T, Shiraga S, Sasagawa Y, Iizuka H, Yamashita M, Kawakami S : Troubleshooting distraction osteogenesis for craniosynostosis. Pediatr Neurosurg 49 : 380-383, 2013 https://doi.org/10.1159/000369029
  3. Arnaud E, Marchac D, Renier D : Reduction of morbidity of the frontofacial monobloc advancement in children by the use of internal distraction. Plast Reconstr Surg 120 : 1009-1026, 2007 https://doi.org/10.1097/01.prs.0000278068.99643.8e
  4. Bannink N, Mathijssen IM, Joosten KF : Can parents predict obstructive sleep apnea in children with syndromic or complex craniosynostosis? Int J Oral Maxillofac Surg 39 : 421-423, 2010 https://doi.org/10.1016/j.ijom.2010.02.001
  5. Cho BC, Hwang SK, Uhm KI : Distraction osteogenesis of the cranial vault for the treatment of craniofacial synostosis. J Craniofac Surg 15 : 135-144, 2004 https://doi.org/10.1097/00001665-200401000-00034
  6. Choi M, Flores RL, Havlik RJ : Volumetric analysis of anterior versus posterior cranial vault expansion in patients with syndromic craniosynostosis. J Craniofac Surg 23 : 455-458, 2012 https://doi.org/10.1097/SCS.0b013e318240ff49
  7. Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A : Chronic tonsillar herniation in Crouzon's and Apert's syndromes : the role of premature synostosis of the lambdoid suture. J Neurosurg 83 : 575-582, 1995 https://doi.org/10.3171/jns.1995.83.4.0575
  8. Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, et al. : Hydrocephalus and craniosynostosis. J Neurosurg 88 : 209-214, 1998 https://doi.org/10.3171/jns.1998.88.2.0209
  9. Cinalli G, Spennato P, Sainte-Rose C, Arnaud E, Aliberti F, Brunelle F, et al. : Chiari malformation in craniosynostosis. Childs Nerv Syst 21 : 889-901, 2005 https://doi.org/10.1007/s00381-004-1115-z
  10. Cohen MM Jr : Pfeiffer syndrome in Cohen MM Jr (ed) : Craniosynostosis, diagnosis, evaluation, and management, ed 2. New York : Oxford University Press, 2000, pp354-360
  11. Collmann H, Sorensen N, Krauss J : Hydrocephalus in craniosynostosis : a review. Childs Nerv Syst 21 : 902-912, 2005 https://doi.org/10.1007/s00381-004-1116-y
  12. de Jong T, Bannink N, Bredero-Boelhouwer HH, van Veelen ML, Bartels MC, Hoeve LJ, et al. : Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile. J Plast Reconstr Aesthet Surg 63 : 1635-1641, 2010 https://doi.org/10.1016/j.bjps.2009.10.029
  13. de Jong T, Maliepaard M, Bannink N, Raat H, Mathijssen IM : Health-related problems and quality of life in patients with syndromic and complex craniosynostosis. Childs Nerv Syst 28 : 879-882, 2012 https://doi.org/10.1007/s00381-012-1681-4
  14. de Jong T, Rijken BF, Lequin MH, van Veelen ML, Mathijssen IM : Brain and ventricular volume in patients with syndromic and complex craniosynostosis. Childs Nerv Syst 28 : 137-140, 2012 https://doi.org/10.1007/s00381-011-1614-7
  15. Derderian C, Seaward J : Syndromic craniosynostosis. Semin Plast Surg 26 : 64-75, 2012 https://doi.org/10.1055/s-0032-1320064
  16. Derderian CA, Bastidas N, Bartlett SP : Posterior cranial vault expansion using distraction osteogenesis. Childs Nerv Syst 28 : 1551-1556, 2012 https://doi.org/10.1007/s00381-012-1802-0
  17. Di Rocco F, Juca CE, Arnaud E, Renier D, Sainte-Rose C : The role of endoscopic third ventriculostomy in the treatment of hydrocephalus associated with faciocraniosynostosis. J Neurosurg Pediatr 6 : 17-22, 2010 https://doi.org/10.3171/2010.3.PEDS09484
  18. Fearon JA, McLaughlin EB, Kolar JC : Sagittal craniosynostosis : surgical outcomes and long-term growth. Plast Reconstr Surg 117 : 532-541, 2006 https://doi.org/10.1097/01.prs.0000200774.31311.09
  19. Fearon JA, Rhodes J : Pfeiffer syndrome : a treatment evaluation. Plast Reconstr Surg 123 : 1560-1569, 2009 https://doi.org/10.1097/PRS.0b013e3181a2057e
  20. Flapper WJ, Anderson PJ, Roberts RM, David DJ : Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes. J Craniofac Surg 20 : 1252-1255, 2009 https://doi.org/10.1097/SCS.0b013e3181acdf9a
  21. Fujimoto T, Imai K, Matsumoto H, Sakamoto H, Nakano T : Tracheobronchial anomalies in syndromic craniosynostosis with 3-dimensional CT image and bronchoscopy. J Craniofac Surg 22 : 1579-1583, 2011 https://doi.org/10.1097/SCS.0b013e31822e5d15
  22. Goldstein JA, Paliga JT, Wink JD, Low DW, Bartlett SP, Taylor JA : A craniometric analysis of posterior cranial vault distraction osteogenesis. Plast Reconstr Surg 131 : 1367-1375, 2013 https://doi.org/10.1097/PRS.0b013e31828bd541
  23. Goodrich JT, Tepper O, Staffenberg DA : Craniosynostosis : posterior two-third cranial vault reconstruction using bioresorbable plates and a PDS suture lattice in sagittal and lambdoid synostosis. Childs Nerv Syst 28 : 1399-1406, 2012 https://doi.org/10.1007/s00381-012-1767-z
  24. Hirabayashi S, Sugawara Y, Sakurai A, Harii K, Park S : Frontoorbital advancement by gradual distraction. Technical note. J Neurosurg 89 : 1058-1061, 1998 https://doi.org/10.3171/jns.1998.89.6.1058
  25. Imai K, Komune H, Toda C, Nomachi T, Enoki E, Sakamoto H, et al. : Cranial remodeling to treat craniosynostosis by gradual distraction using a new device. J Neurosurg 96 : 654-659, 2002 https://doi.org/10.3171/jns.2002.96.4.0654
  26. Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, Walsh S, et al. : A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 63 : 1282-1293, 1998 https://doi.org/10.1086/302122
  27. Kim YO, Choi JW, Kim DS, Lee WJ, Yoo SK, Kim HJ, et al. : Cranial growth after distraction osteogenesis of the craniosynostosis. J Craniofac Surg 19 : 45-55, 2008 https://doi.org/10.1097/SCS.0b013e31815c9510
  28. Komuro Y, Shimizu A, Shimoji K, Miyajima M, Arai H : Posterior cranial vault distraction osteogenesis with barrel stave osteotomy in the treatment of craniosynostosis. Neurol Med Chir (Tokyo) 55 : 617-623, 2015 https://doi.org/10.2176/nmc.ra.2014-0401
  29. Kreiborg S, Cohen MM Jr : Ocular manifestations of Apert and Crouzon syndromes : qualitative and quantitative findings. J Craniofac Surg 21 : 1354-1357, 2010 https://doi.org/10.1097/SCS.0b013e3181ef2b53
  30. Lauritzen CG, Davis C, Ivarsson A, Sanger C, Hewitt TD : The evolving role of springs in craniofacial surgery : the first 100 clinical cases. Plast Reconstr Surg 121 : 545-554, 2008
  31. Maliepaard M, Mathijssen IM, Oosterlaan J, Okkerse JM : Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis. Pediatrics 133 : e1608-e1615, 2014 https://doi.org/10.1542/peds.2013-3077
  32. Marchac D, Renier D, Broumand S : Timing of treatment for craniosynostosis and facio-craniosynostosis : a 20-year experience. Br J Plast Surg 47 : 211-222, 1994 https://doi.org/10.1016/0007-1226(94)90001-9
  33. Mathijssen IM : Guideline for care of patients with the diagnoses of craniosynostosis : Working Group on Craniosynostosis. J Craniofac Surg 26 : 1735-1807, 2015 https://doi.org/10.1097/SCS.0000000000002016
  34. McCarthy JG, Glasberg SB, Cutting CB, Epstein FJ, Grayson BH, Ruff G, et al. : Twenty-year experience with early surgery for craniosynostosis : II. The craniofacial synostosis syndromes and pansynostosis--results and unsolved problems. Plast Reconstr Surg 96 : 284-295; discussion 296-298, 1995 https://doi.org/10.1097/00006534-199508000-00005
  35. Nonaka Y, Oi S, Miyawaki T, Shinoda A, Kurihara K : Indication for and surgical outcomes of the distraction method in various types of craniosynostosis. Advantages, disadvantages, and current concepts for surgical strategy in the treatment of craniosynostosis. Childs Nerv Syst 20 : 702-709, 2004
  36. Nowinski D, Di Rocco F, Renier D, SainteRose C, Leikola J, Arnaud E : Posterior cranial vault expansion in the treatment of craniosynostosis. Comparison of current techniques. Childs Nerv Syst 28 : 1537-1544, 2012 https://doi.org/10.1007/s00381-012-1809-6
  37. Park DH, Yoon SH : Transsutural distraction osteogenesis for 285 children with craniosynostosis : a single-institution experience. J Neurosurg Pediatr 18 : 1-10, 2015
  38. Rachmiel A, Leiser Y : The molecular and cellular events that take place during craniofacial distraction osteogenesis. Plast Reconstr Surg Glob Open 2 : e98, 2014 https://doi.org/10.1097/GOX.0000000000000043
  39. Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D : Prognosis for mental function in Apert's syndrome. J Neurosurg 85 : 66-72, 1996 https://doi.org/10.3171/jns.1996.85.1.0066
  40. Renier D, Lajeunie E, Arnaud E, Marchac D : Management of craniosynostoses. Childs Nerv Syst 16 : 645-658, 2000 https://doi.org/10.1007/s003810000320
  41. Renier D, Sainte-Rose C, Marchac D, Hirsch JF : Intracranial pressure in craniostenosis. J Neurosurg 57 : 370-377, 1982 https://doi.org/10.3171/jns.1982.57.3.0370
  42. Rhodes JL, Tye GW, Fearon JA : Craniosynostosis of the lambdoid suture. Semin Plast Surg 28 : 138-143, 2014 https://doi.org/10.1055/s-0034-1384809
  43. Rijken BF, Lequin MH, Van Veelen ML, de Rooi J, Mathijssen IM : The formation of the foramen magnum and its role in developing ventriculomegaly and Chiari I malformation in children with craniosynostosis syndromes. J Craniomaxillofac Surg 43 : 1042-1048, 2015 https://doi.org/10.1016/j.jcms.2015.04.025
  44. Sacco D, Scott RM : Reoperation for Chiari malformations. Pediatr Neurosurg 39 : 171-178, 2003 https://doi.org/10.1159/000072467
  45. Samra F, Swanson JW, Mitchell B, Bauder AR, Wes A, Bartlett SP, et al. : An evidence-based algorithm for managing syndromic craniosynostosis in the era of posterior vault distraction osteogenesis. Plast Reconstr Surg 136 (4 Suppl) : 6-7, 2015 https://doi.org/10.1097/01.prs.0000472277.76803.e4
  46. Sandberg DI, Navarro R, Blanch J, Ragheb J : Anomalous venous drainage preventing safe posterior fossa decompression in patients with chiari malformation type I and multisutural craniosynostosis. Report of two cases and review of the literature. J Neurosurg 106 (6 Suppl) : 490-494, 2007
  47. Scott WW, Fearon JA, Swift DM, Sacco DJ : Suboccipital decompression during posterior cranial vault remodeling for selected cases of Chiari malformations associated with craniosynostosis. J Neurosurg Pediatr 12 : 166-170, 2013 https://doi.org/10.3171/2013.4.PEDS12463
  48. Seruya M, Oh AK, Boyajian MJ, Posnick JC, Myseros JS, Yaun AL, et al. : Long-term outcomes of primary craniofacial reconstruction for craniosynostosis : a 12-year experience. Plast Reconstr Surg 127 : 2397-2406, 2011 https://doi.org/10.1097/PRS.0b013e318213a178
  49. Sgouros S : Skull vault growth in craniosynostosis. Childs Nerv Syst 21 : 861-870, 2005 https://doi.org/10.1007/s00381-004-1112-2
  50. Sgouros S, Goldin JH, Hockley AD, Wake MJ : Posterior skull surgery in craniosynostosis. Childs Nerv Syst 12 : 727-733, 1996 https://doi.org/10.1007/BF00366158
  51. Sgouros S, Hockley AD, Goldin JH, Wake MJ, Natarajan K : Intracranial volume change in craniosynostosis. J Neurosurg 91 : 617-625, 1999 https://doi.org/10.3171/jns.1999.91.4.0617
  52. Steinbacher DM, Skirpan J, Puchala J, Bartlett SP : Expansion of the posterior cranial vault using distraction osteogenesis. Plast Reconstr Surg 127 : 792-801, 2011 https://doi.org/10.1097/PRS.0b013e318200ab83
  53. Strahle J, Muraszko KM, Buchman SR, Kapurch J, Garton HJ, Maher CO : Chiari malformation associated with craniosynostosis. Neurosurg Focus 31 : E2, 2011
  54. Tamburrini G, Caldarelli M, Massimi L, Gasparini G, Pelo S, Di Rocco C : Complex craniosynostoses : a review of the prominent clinical features and the related management strategies. Childs Nerv Syst 28 : 1511-1523, 2012 https://doi.org/10.1007/s00381-012-1819-4
  55. Taylor JA, Derderian CA, Bartlett SP, Fiadjoe JE, Sussman EM, Stricker PA : Perioperative morbidity in posterior cranial vault expansion : distraction osteogenesis versus conventional osteotomy. Plast Reconstr Surg 129 : 674e-680e, 2012 https://doi.org/10.1097/PRS.0b013e3182443164
  56. Taylor WJ, Hayward RD, Lasjaunias P, Britto JA, Thompson DN, Jones BM, et al. : Enigma of raised intracranial pressure in patients with complex craniosynostosis : the role of abnormal intracranial venous drainage. J Neurosurg 94 : 377-385, 2001 https://doi.org/10.3171/jns.2001.94.3.0377
  57. Tessier P : Chapter 19. Craniofacial surgery in syndromic craniosynostosis in Cohen MM, Maclean RE (eds) : Craniosynsotosis, ed 2. New York : Oxford University Press, 2000, pp228-268
  58. Tovetjarn RC, Maltese G, Wikberg E, Bernhardt P, Kolby L, Tarnow PE : Intracranial volume in 15 children with bilateral coronal craniosynostosis. Plast Reconstr Surg Glob Open 2 : e243, 2014 https://doi.org/10.1097/GOX.0000000000000216
  59. Twigg SR, Wilkie AO : A genetic-pathophysiological framework for craniosynostosis. Am J Hum Genet 97 : 359-377, 2015 https://doi.org/10.1016/j.ajhg.2015.07.006
  60. Utria AF, Mundinger GS, Bellamy JL, Zhou J, Ghasemzadeh A, Yang R, et al. : The importance of timing in optimizing cranial vault remodeling in syndromic craniosynostosis. Plast Reconstr Surg 135 : 1077-1084, 2015 https://doi.org/10.1097/PRS.0000000000001058
  61. Whitaker LA, Bartlett SP, Schut L, Bruce D : Craniosynostosis : an analysis of the timing, treatment, and complications in 164 consecutive patients. Plast Reconstr Surg 80 : 195-212, 1987 https://doi.org/10.1097/00006534-198708000-00006
  62. White N, Evans M, Dover MS, Noons P, Solanki G, Nishikawa H : Posterior calvarial vault expansion using distraction osteogenesis. Childs Nerv Syst 25 : 231-236, 2009 https://doi.org/10.1007/s00381-008-0758-6
  63. Winston KR, Ketch LL, Dowlati D : Cranial vault expansion by distraction osteogenesis. J Neurosurg Pediatr 7 : 351-361, 2011 https://doi.org/10.3171/2011.1.PEDS10330
  64. Winston KR, Stence NV, Boylan AJ, Beauchamp KM : Upward translation of cerebellar tonsils following surgical expansion of supratentorial cranial vault : a unified biomechanical explanation of chiari type I. Pediatr Neurosurg 50 : 243-249, 2015 https://doi.org/10.1159/000437146
  65. Witherow H, Dunaway D, Evans R, Nischal KK, Shipster C, Pereira V, et al. : Functional outcomes in monobloc advancement by distraction using the rigid external distractor device. Plast Reconstr Surg 121 : 1311-1322, 2008 https://doi.org/10.1097/01.prs.0000305538.75347.52
  66. Wong GB, Kakulis EG, Mulliken JB : Analysis of fronto-orbital advancement for Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes. Plast Reconstr Surg 105 : 2314-2323, 2000 https://doi.org/10.1097/00006534-200006000-00002
  67. Yamaguchi K, Imai K, Fujimoto T, Takahashi M, Maruyama Y, Sakamoto H, et al. : Cranial distraction osteogenesis for syndromic craniosynostosis : long-term follow-up and effect on postoperative cranial growth. J Plast Reconstr Aesthet Surg 67 : e35-e41, 2014 https://doi.org/10.1016/j.bjps.2013.09.008