Child's Nervous System

, Volume 21, Issue 10, pp 902–912 | Cite as

Hydrocephalus in craniosynostosis: a review

Focus Session



Ventricular dilatation in the presence of primary craniosynostosis is a unique condition with respect to pathogenesis, clinical significance, and morphological appearance. It is rarely observed in nonsyndromic craniosynostosis, and in these cases usually attributable to coincidental disorders. Conversely, it is a common feature of syndromic craniosynostosis, affecting at least 40% of patients with Crouzon’s, Pfeiffer’s or the Apert syndrome. Shunt-dependent hydrocephalus is predominantly associated with Crouzon or Pfeiffer syndrome while in the Apert syndrome the usual finding is nonprogressive ventriculomegaly which, however, may also occur in some cases of Crouzon syndrome.


The pathogenesis of progressive hydrocephalus remains somewhat obscure, a hypoplastic posterior fossa and a venous outlet occlusion at the skull base being the main causative factors discussed in literature. Ventriculomegaly may reflect primary brain maldevelopment or in some cases even a compensated state of increased cerebrospinal fluid (CSF) outflow resistance.

Clinical evaluation

Clinical evaluation is mainly aimed at identifying progressive hydrocephalus, but diagnosis is hampered by the fact that classical clinical signs may be absent, and that ventricular dilatation will often become evident only after decompressive cranial surgery. Moreover, mild ventriculomegaly may in some cases coexist with intracranial hypertension from craniostenosis. Therefore, careful monitoring of intracranial pressure and ventricular size in the pre- and postoperative period is a diagnostic mainstay.


In true hydrocephalus ventriculo-peritoneal shunting is currently the single promising mode of treatment.


Cranioynostosis Crouzon’s syndrome Hydrocephalus Venticulomegaly Chiari malformation Venous outflow obstruction 


  1. 1.
    Bamforth JS (1992) Amniotic band sequence: Streeter’s hypothesis re-examined. Am J Med Genet 44:280–287PubMedGoogle Scholar
  2. 2.
    Bertelsen TI (1958) The premature synostosis of the cranial sutures. Acta Ophthalmol (Copenh) Suppl 51:1–176Google Scholar
  3. 3.
    Braddock SR, Jones KL, Superneau DW, Jones MC (1993) Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome. Am J Med Genet 47:640–643PubMedGoogle Scholar
  4. 4.
    Carmel PW, Luken MG, Ascherl GF (1981) Craniosynostosis: computed tomographic evaluation of skull base and calvarial deformities and associated intracranial changes. Neurosurgery 9:366–372PubMedGoogle Scholar
  5. 5.
    Chadduck WM, Chadduck JB, Boop FA (1992) The subarachnoid spaces in craniosynostosis. Neurosurgery 30:867–871PubMedGoogle Scholar
  6. 6.
    Chumas PD, Drake JM, Del Bigio MR (1992) Death from chronic tonsillar herniation in a patient with lumboperitoneal shunt and Crouzon’s disease. Br J Neurosurg 6:595–599PubMedGoogle Scholar
  7. 7.
    Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A (1995) Chronic tonsillar herniation in Crouzon’s and Apert’s syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 83:575–582PubMedGoogle Scholar
  8. 8.
    Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D (1998) Hydrocephalus and craniosynostosis. J Neurosurg 88:209–214PubMedGoogle Scholar
  9. 9.
    Cinalli G, Chumas P, Arnaud E, Sainte-Rose C, Renier D (1998) Occipital remodelling and suboccipital decompression in severe craniosynostosis associated with tonsillar herniation. Neurosurgery 42:66–73PubMedGoogle Scholar
  10. 10.
    Cohen MM, Kreiborg S (1990) The central nervous system in the Apert syndrome. Am J Med Genet 35:36–45PubMedGoogle Scholar
  11. 11.
    Cohen MM, Kreiborg S (1992) Apert syndrome. In: Cohen MM, McLean RE (eds) Craniosynostosis—diagnosis, evaluation, and management, 2nd edn. Oxford University Press, New York, pp 316–353Google Scholar
  12. 12.
    Cohen MM (1998) Achondroplasia, hypochondroplasia, and thanatophoric dysplasia: clinically skeletal dysplasias that are also related at the molecular level. Int J Oral Maxillofac Surg 27:451–455PubMedGoogle Scholar
  13. 13.
    Collmann H, Sörensen N, Krauss J, Mühling J (1988) Hydrocephalus in craniosynostosis. Childs Nerv Syst 4:279–285PubMedGoogle Scholar
  14. 14.
    Collmann H, Sörensen N, Krauß J (1996) Consensus: trigonocephaly. Childs Nerv Syst 12:664–668PubMedGoogle Scholar
  15. 15.
    David DJ, Poswillo D, Simpson D (1982) The craniosynostoses. Causes, natural history, and management. Springer, Berlin Heidelberg New YorkGoogle Scholar
  16. 16.
    Delashaw JB, Persing JA, Broaddus WC, Jane JA (1989) Cranial vault growth in craniosynostosis. J Neurosurg 70:159–165PubMedGoogle Scholar
  17. 17.
    Di Rocco C, Caldarelli M, Mangiola A, Milani A (1988) The lumbar subarachnoid infusion test in infants. Childs Nerv Syst 4:16–21PubMedGoogle Scholar
  18. 18.
    Fishman MA, Hogan GR, Dodge PR (1971) The concurrence of hydrocephalus and craniosynostosis. J Neurosurg 34:621–629PubMedGoogle Scholar
  19. 19.
    Francis PM, Beals S, Rekate HL, Pittmann HW, Manwaring K, Reiff J (1992) Chronic tonsillar herniation and Crouzon’s syndrome. Pediatr Neurosurg 18:202–206PubMedGoogle Scholar
  20. 20.
    Golabi M, Edwards MSB, Ousterhout DK (1987) Craniosynostosis and hydrocephalus. Neurosurgery 21:63–67PubMedGoogle Scholar
  21. 21.
    Gosain AK, McCarthy JG, Wisoff JH (1996) Morbidity associated with increased intracranial pressure in Apert and Pfeiffer syndromes: the need for long-term evaluation. Plast Reconstr Surg 97:292–301PubMedGoogle Scholar
  22. 22.
    Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW (1998) Shprintzen-Goldberg syndrome: a clinical analysis. Am J Med Genet 76:202–212PubMedGoogle Scholar
  23. 23.
    Gross H (1957) Zur Kenntnis der Beziehungen zwischen Gehirn und Schädelkapsel bei den turricephalen craniostenostischen Dysostosen. Virchows Arch Pathol Anat 330:365–383Google Scholar
  24. 24.
    Günther H (1931) Der Turmschädel als Konstitutionsanomalie und als klinisches Symptom. Ergeb Inn Med Kinderheilkd 40:40–135Google Scholar
  25. 25.
    Hanieh A, David DJ (1993) Apert’s syndrome. Childs Nerv Syst 9:289–291PubMedGoogle Scholar
  26. 26.
    Hassler W, Zentner J (1990) Radical osteoclastic craniectomy in sagittal synostosis. Neurosurgery 27:539–543PubMedGoogle Scholar
  27. 27.
    Hoffman HJ, Hendrick EB (1979) Early neurosurgical repair in craniofacial dysmorphism. J Neurosurg 51:796–803PubMedGoogle Scholar
  28. 28.
    Hoffman HJ, Tucker WS (1976) Cephalocranial disproportion. A complication of the treatment of hydrocephalus in children. Childs Brain 2:353–358Google Scholar
  29. 29.
    Hopkins TE, Haines SJ (2003) Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. J Neurosurg 98:1113–1115PubMedGoogle Scholar
  30. 30.
    Hunter AGW, Rudd NL (1976) Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s). Teratology 14:185–193PubMedGoogle Scholar
  31. 31.
    Hunter AGW, Rudd NL (1977) Craniosynostosis. II. Coronal craniosynostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. Teratology 15:301–310PubMedGoogle Scholar
  32. 32.
    Karahalios DG, Rekate HL, Khayata MH, Apostolides PJ (1996) Elevated intracranial venous pressure as a universal mechanism in pseudotumor cerebri of varying etiologies. Neurology 46:198–202PubMedGoogle Scholar
  33. 33.
    Kloss JL (1968) Craniosynostosis secondary to ventriculoatrial shunt. Am J Dis Child 116:315–317PubMedGoogle Scholar
  34. 34.
    Lee HJ, Cho DY, Tsai FJ, Shen WC (2001) Antley–Bixler syndrome, description of two new cases and review of the literature. Pediatr Neurosurg 34:33–39PubMedGoogle Scholar
  35. 35.
    Lodge ML, Moore MH, Hanieh A, Trott JA, David DJ (1993) The cloverleaf skull anomaly: managing extreme cranio-orbitofaciostenosis. Plast Reconstr Surg 91:1–9; discussion 10–14PubMedGoogle Scholar
  36. 36.
    Lundar T, Nornes H (1991) Steady-state lumbar infusion tests in the management of children with craniosynostosis. Childs Nerv Syst 7:31–33PubMedGoogle Scholar
  37. 37.
    Marchac D, Renier D (1982) Craniofacial surgery for craniosynostosis. Little, Brown, BostonGoogle Scholar
  38. 38.
    Marin-Padilla M, Marin-Padilla TM (1981) Morphogenesis of experimentally induced Arnold-Chiari malformation. J Neurol Sci 50:29–55PubMedGoogle Scholar
  39. 39.
    Martinez-Lage JF, Poza M, Lluch T (1996) Craniosynostosis in neural tube defects: a theory on its pathogenesis. Surg Neurol 46:465–470PubMedGoogle Scholar
  40. 40.
    Montaut J, Stricker M (1977) Les dysmorphies craniofaciales. Les synostoses prématurées (craniosténoses et faciosténoses). Neurochirurgie 23 [Suppl 2]:1–299Google Scholar
  41. 41.
    Moore MH, Hanieh A (1994) Hydrocephalus in Pfeiffer syndrome. J Clin Neuroscience 1:202–204Google Scholar
  42. 42.
    Moore MH, Abbott AH (1996) Extradural deadspace after infant fronto-orbital advancement in Apert syndrome. Cleft Palate Craniofac J 33:202–205PubMedGoogle Scholar
  43. 43.
    Moore MH, Hanieh A (1996) Cerebrospinal fluid spaces before and after fronto-orbital advancement in unilateral coronal craniosynostosis. J Craniofac Surg 7:102–105PubMedGoogle Scholar
  44. 44.
    Moore MH, Abbott AH, Netherway DJ, Menard R, Hanieh A (1998) Bilambdoid and posterior sagittal synostosis: the Mercedes Benz syndrome. J Craniofac Surg 9:417–422PubMedGoogle Scholar
  45. 45.
    Mulliken JB, Steinberger D, Kunze S, Müller U (1999) Molecular diagnosis of bilateral coronal synostosis. Plast Reconstr Surg 104:1603–1615PubMedGoogle Scholar
  46. 46.
    Murovic JA, Posnick JC, Drake JM, Humphreys RP, Hoffman HJ, Hendricks EB (1993) Hydrocephalus in Apert syndrome: a retrospective review. Pediatr Neurosurg 19:151–155PubMedGoogle Scholar
  47. 47.
    Mursch K, Enk T, Christen HJ, Markakis E, Behnke-Mursch J (1999) Venous intracranial hemodynamics in children undergoing operative treatment for the repair of craniosynostosis—a prospective study using transcranial colour-coded duplex sonography. Childs Nerv Syst 15:110–118PubMedGoogle Scholar
  48. 48.
    Noetzel MJ, Marsh JL, Palkes H, Gado M (1985) Hydrocephalus and mental retardation in craniosynostosis. J Pediatr 107:885–892PubMedGoogle Scholar
  49. 49.
    Park EA, Powers GF (1920) Acrocephaly and scaphocephaly with symmetrically distributed malformations of the extremities. Am J Dis Child 20:235–315Google Scholar
  50. 50.
    Pierre-Kahn A, Hirsch JF, Renier D, Metzger J, Maroteaux P (1980) Hydrocephalus and achondroplasia. A study of 25 observations. Childs Brain 7:205–219PubMedGoogle Scholar
  51. 51.
    Proudman TW, Clark BE, Moore MH, Abbott AH, David DJ (1995) Central nervous system imaging in Crouzon’s syndrome. J Craniofac Surg 6:401–405PubMedGoogle Scholar
  52. 52.
    Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D (1996) Prognosis for mental function in Apert’s syndrome. J Neurosurg 85:66–72PubMedGoogle Scholar
  53. 53.
    Rieping A (1919) Zur Pathogenese des Turmschädels. Dtsch Z Chir 148:1–51Google Scholar
  54. 54.
    Rollins N, Booth T, Shapiro K (2000) MR venography in children with complex craniosynostosis. Pediatr Neurosurg 32:308–315PubMedGoogle Scholar
  55. 55.
    Sainte-Rose C, Lacombe J, Pierre-Kahn A, Renier D, Hirsch J-F (1984) Intracranial venous sinus hypertension: cause or consequence of hydrocephalus in infants? J Neurosurg 60:727–736PubMedGoogle Scholar
  56. 56.
    Sawin PD, Muhonen MG, Menezes AH (1996) Quantitative analysis of cerebrospinal fluid spaces in children with occipital plagiocephaly. J Neurosurg 85:428–434PubMedGoogle Scholar
  57. 57.
    Scarfo GB, Tomaccini D, Gambacorta D, Capaccioli L (1979) Contribution to the study of craniostenosis: disturbance of the cerebrospinal fluid flow in oxycephaly. Helv Paediatr Acta 34:235–243PubMedGoogle Scholar
  58. 58.
    Sgouros S, Natarajan K, Hockley AD, Goldin JH, Wake M (1999) Skull base growth in craniosynostosis. Pediatr Neurosurg 31:281–293PubMedGoogle Scholar
  59. 59.
    Shiroyama Y, Ito H, Yamashita T, Nakano S, Kurokawa Y (1991) The relationship of cloverleaf skull syndrome to hydrocephalus. Childs Nerv Syst 7:382–385PubMedGoogle Scholar
  60. 60.
    Shillito J, Matson DD (1968) Craniosynostosis: a review of 519 surgical patients. Pediatrics 41:829–853PubMedGoogle Scholar
  61. 61.
    Steinbok P, Hall J, Flodmark O (1989) Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg 71:42–48PubMedGoogle Scholar
  62. 62.
    Taravath S, Tonsgard JH (1993) Cerebral malformations in Carpenter syndrome. Pediatr Neurol 9:230–234PubMedGoogle Scholar
  63. 63.
    Taylor WJ, Hayward RD, Lasjaunias P, Britto JA, Thompson DNP, Jones BM, Evans RD (2001) Enigma of raised intracranial pressure in patients with complex craniosynostosis: the role of abnormal intracranial venous drainage. J Neurosurg 94:377–385PubMedGoogle Scholar
  64. 64.
    Thompson DNP, Harkness W, Jones BM, Hayward RD (1997) Aetiology of herniation of the hindbrain in craniosynostosis. Pediatr Neurosurg 26:288–295PubMedGoogle Scholar
  65. 65.
    Thompson DNP, Jones BM, Harkness W, Gonsalez S, Hayward RD (1997) Consequences of cranial vault expansion for craniosynostosis. Pediatr Neurosurg 26:296–303PubMedGoogle Scholar
  66. 66.
    Tokumaru AM, Barkovich AJ, Ciricillo SF, Edwards MS (1996) Skull base and calvarial deformities: association with intracranial changes in craniofacial syndromes. Am J Neuroradiol 17:619–630PubMedGoogle Scholar
  67. 67.
    Venes JL (1988) Arnold-Chiari malformation in an infant with Kleeblattschädel: an acquired malformation? Neurosurgery 23:360–362PubMedGoogle Scholar
  68. 68.
    Wang TJ, Hung KS, Chen PK, Chuang WI, Shih TY, Lai BJ, Hsiao M (2002) Beare–Stevenson cutis gyrata syndrome with Chiari malformation. Acta Neurochir 144:743–745Google Scholar

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  1. 1.Section of Pediatric NeurosurgeryWürzburg UniversityWürzburgGermany

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