Skip to main content

Advertisement

SpringerLink
Log in

Craniosynostosis and hydrocephalus: relevance and treatment modalities

  • Annual Issue Paper
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Introduction

Hydrocephalus is variously associated to syndromic craniosynostosis (CS), while it is randomly encountered in monosutural CS. Pathogenesis is still debated and reliable criteria for the diagnosis of overt hydrocephalus are lacking. Additionally, optimal treatment is controversial since it should balance the need to relieve intracranial hypertension and the risk of recurrence favored by lowering intracranial pressure.

Methods

A thorough review of the literature has been performed. Accordingly, pathogenic theories, diagnostic issues, and treatment options on hydrocephalus presenting in the context of CS are discussed.

Results

The association of hydrocephalus to simple CS is considered a fortuitous event. Its treatment is usually driven by the etiology and clinical relevance of hydrocephalus, favoring treatment before surgical correction to reduce CSF-related complications. On the other side, pathogenesis of hydrocephalus in the context of syndromic CS has been mainly related to factors that are secondary to the synostostic process, such as craniocerebral disproportion and venous hypertension. Hydrocephalus complicates 12–15% of syndromic CS, though its incidence is more relevant in FGFR2-related CS and raises up to 88% in Pfeiffer syndrome. Overt hydrocephalus should be properly differentiated by non-tense ventriculomegaly that is more frequent in Apert syndrome. Since intracranial hypertension is constant in syndromic CS even in the absence of active hydrocephalus, radiological monitoring of ventricular size along with intracranial pressure monitoring is essential. Active hydrocephalus occurs more frequently in infants, though stable ventriculomegaly may evolve into overt hydrocephalus after cranial expansion. If hydrocephalus is not clinically prominent, cranial expansion should be favored as first surgical step. Although posterior cranial expansion may address posterior cranial fossa constriction and stabilize ventricular dilation, effectiveness in long-term control of hydrocephalus is not clear. ETV is an effective treatment option, though success rate is affected by the presence of brain malformations and patient age. Extrathecal CSF shunting should be used as last resource due to the increased risk of complications in this context.

Conclusions

The pathogenesis of hydrocephalus complicating syndromic CS should be further investigated. Concomitantly, the definition of reliable diagnostic criteria is advocated in order to promptly and properly identify active hydrocephalus. Finally, treatment algorithm should refine the best timing and treatment options aiming to relieve intracranial hypertension on one side and reduce the risk of restenosis on the other side.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

References

  1. Collmann H, Sörensen N, Krauss J (2005) Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 21:902–912. https://doi.org/10.1007/s00381-004-1116-y

    Article  CAS  PubMed  Google Scholar 

  2. 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 88:209–214. https://doi.org/10.3171/jns.1998.88.2.0209

    Article  CAS  PubMed  Google Scholar 

  3. Di Rocco F, Jucá CE, Arnaud E et al (2010) The role of endoscopic third ventriculostomy in the treatment of hydrocephalus associated with faciocraniosynostosis. J Neurosurg Pediatr 6:17–22. https://doi.org/10.3171/2010.3.PEDS09484

    Article  PubMed  Google Scholar 

  4. Di Rocco C, Frassanito P, Massimi L, Peraio S (2011) Hydrocephalus and Chiari type I malformation. Childs Nerv Syst 27:1653–1664. https://doi.org/10.1007/s00381-011-1545-3

    Article  PubMed  Google Scholar 

  5. Massimi L, Pennisi G, Frassanito P, Tamburrini G, di Rocco C, Caldarelli M (2019) Chiari type I and hydrocephalus. Childs Nerv Syst 35:1701–1709. https://doi.org/10.1007/s00381-019-04245-6

    Article  PubMed  Google Scholar 

  6. Kreiborg S, Marsh JL, Cohen MM et al (1993) Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes. J Craniomaxillofac Surg 21:181–188. https://doi.org/10.1016/s1010-5182(05)80478-0

    Article  CAS  PubMed  Google Scholar 

  7. Rijken BFM, Lequin MH, Van Veelen M-LC et al (2015) 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. https://doi.org/10.1016/j.jcms.2015.04.025

    Article  PubMed  Google Scholar 

  8. Coll G, El Ouadih Y, Abed Rabbo F et al (2019) Hydrocephalus and Chiari malformation pathophysiology in FGFR2-related faciocraniosynostosis: a review. Neurochirurgie 65:264–268. https://doi.org/10.1016/j.neuchi.2019.09.001

    Article  CAS  PubMed  Google Scholar 

  9. Hoffman HJ, Tucker WS (1976) Cephalocranial disproportion. PNE 2:167–176. https://doi.org/10.1159/000119612

    Article  CAS  Google Scholar 

  10. Coll G, Abed Rabbo F, Jecko V, Sakka L, di Rocco F, Delion M (2019) The growth of the posterior cranial fossa in FGFR2-induced faciocraniosynostosis: a review. Neurochirurgie 65:221–227. https://doi.org/10.1016/j.neuchi.2019.09.005

    Article  CAS  PubMed  Google Scholar 

  11. Machado G, Di Rocco F, Sainte-Rose C et al (2011) Cloverleaf skull deformity and hydrocephalus. Childs Nerv Syst 27:1683–1691. https://doi.org/10.1007/s00381-011-1508-8

    Article  PubMed  Google Scholar 

  12. Mavridis IN, Rodrigues D (2021) Nervous system involvement in Pfeiffer syndrome. Childs Nerv Syst 37:367–374. https://doi.org/10.1007/s00381-020-04934-7

    Article  PubMed  Google Scholar 

  13. Sainte-Rose C, LaCombe J, Pierre-Kahn A, Renier D, Hirsch JF (1984) Intracranial venous sinus hypertension: cause or consequence of hydrocephalus in infants? J Neurosurg 60:727–736. https://doi.org/10.3171/jns.1984.60.4.0727

    Article  CAS  PubMed  Google Scholar 

  14. Ghali GZ, Zaki Ghali MG, Ghali EZ, Srinivasan VM, Wagner KM, Rothermel A, Taylor J, Johnson J, Kan P, Lam S, Britz G (2019) Intracranial venous hypertension in craniosynostosis: mechanistic underpinnings and therapeutic implications. World Neurosurg 127:549–558. https://doi.org/10.1016/j.wneu.2018.07.260

    Article  PubMed  Google Scholar 

  15. Cinalli G, Spennato P, Sainte-Rose C, Arnaud E, Aliberti F, Brunelle F, Cianciulli E, Renier D (2005) Chiari malformation in craniosynostosis. Childs Nerv Syst 21:889–901. https://doi.org/10.1007/s00381-004-1115-z

    Article  PubMed  Google Scholar 

  16. Chen L, Elias G, Yostos MP, Stimec B, Fasel J, Murphy K (2015) Pathways of cerebrospinal fluid outflow: a deeper understanding of resorption. Neuroradiology 57:139–147. https://doi.org/10.1007/s00234-014-1461-9

    Article  PubMed  Google Scholar 

  17. Frassanito P, Di Rocco C (2020) Hydrocephalus: generalities and clinical presentations. In: Di Rocco C, Pang D, Rutka J (eds) Textbook of pediatric neurosurgery. Springer, Cham

    Google Scholar 

  18. Trevisi G, Frassanito P, Di Rocco C (2014) Idiopathic cerebrospinal fluid overproduction: case-based review of the pathophysiological mechanism implied in the cerebrospinal fluid production. Croat Med J 55:377–387

    Article  CAS  Google Scholar 

  19. Chadduck WM, Chadduck JB, Boop FA (1992) The subarachnoid spaces in craniosynostosis. Neurosurgery 30:867–871. https://doi.org/10.1227/00006123-199206000-00008

    Article  CAS  PubMed  Google Scholar 

  20. Coll G, Arnaud E, Collet C, Brunelle F, Sainte-Rose C, di Rocco F (2015) Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis. Neurosurgery 76:571–583; discussion 583. https://doi.org/10.1227/NEU.0000000000000676

    Article  PubMed  Google Scholar 

  21. Noetzel MJ, Marsh JL, Palkes H, Gado M (1985) Hydrocephalus and mental retardation in craniosynostosis. J Pediatr 107:885–892. https://doi.org/10.1016/S0022-3476(85)80181-5

    Article  CAS  PubMed  Google Scholar 

  22. Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D (1996) Prognosis for mental function in Apert’s syndrome. J Neurosurg 85:66–72. https://doi.org/10.3171/jns.1996.85.1.0066

    Article  CAS  PubMed  Google Scholar 

  23. Hanieh A, David DJ (1993) Apert’s syndrome. Childs Nerv Syst 9:289–291. https://doi.org/10.1007/BF00306277

    Article  CAS  PubMed  Google Scholar 

  24. Kilcoyne S, Potter KR, Gordon Z, Overton S, Brockbank S, Jayamohan J, Magdum S, Smith M, Johnson D, Wall S, Wilkie AOM (2021) Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome. J Craniofac Surg 32:134–140. https://doi.org/10.1097/SCS.0000000000007153

    Article  PubMed  Google Scholar 

  25. Murovic JA, Posnick JC, Drake JM, Humphreys RP, Hoffman HJ, Hendricks B (1993) Hydrocephalus in Apert syndrome: a retrospective review. Pediatr Neurosurg 19:151–155. https://doi.org/10.1159/000120720

    Article  CAS  PubMed  Google Scholar 

  26. Capra V, De Marco P, Merello E et al (2009) Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. Eur J Med Genet 52:17–22. https://doi.org/10.1016/j.ejmg.2008.10.005

    Article  PubMed  Google Scholar 

  27. Beltrami B, Prada E, Tolva G, Scuvera G, Silipigni R, Graziani D, Bulfamante G, Gervasini C, Marchisio P, Milani D (2020) Unexpected phenotype in a frameshift mutation of PTCH1. Mol Genet Genomic Med 8:e987. https://doi.org/10.1002/mgg3.987

    Article  PubMed  Google Scholar 

  28. Sakamoto K, Senda D, von Däniken S, Boztepe B, Komuro Y, Shimoji K (2021) Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis. Childs Nerv Syst. https://doi.org/10.1007/s00381-021-05087-x

  29. Tamburrini G, Caldarelli M, Massimi L, Santini P, di Rocco C (2005) Intracranial pressure monitoring in children with single suture and complex craniosynostosis: a review. Childs Nerv Syst 21:913–921. https://doi.org/10.1007/s00381-004-1117-x

    Article  CAS  PubMed  Google Scholar 

  30. Hayward R (2005) Venous hypertension and craniosynostosis. Childs Nerv Syst 21:880–888. https://doi.org/10.1007/s00381-004-1114-0

    Article  CAS  PubMed  Google Scholar 

  31. Lin LO, Zhang RS, Hoppe IC, Paliga JT, Swanson JW, Bartlett SP, Taylor JA (2019) Onset and resolution of Chiari malformations and hydrocephalus in syndromic craniosynostosis following posterior vault distraction. Plast Reconstr Surg 144:932–940. https://doi.org/10.1097/PRS.0000000000006041

    Article  CAS  PubMed  Google Scholar 

  32. Tamburrini G, Caldarelli M, Massimi L, Gasparini G, Pelo S, di Rocco C (2012) Complex craniosynostoses: a review of the prominent clinical features and the related management strategies. Childs Nerv Syst 28:1511–1523. https://doi.org/10.1007/s00381-012-1819-4

    Article  CAS  PubMed  Google Scholar 

  33. Di Rocco C, Frassanito P, Pelo S, Tamburrini G (2015) Syndromic craniosynostosis. In: Cohen AR (ed) Pediatric neurosurgery: tricks of the trade. Thieme Medical Publishers

  34. Sandberg DI, Navarro R, Blanch J, Ragheb J (2007) 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 106:490–494. https://doi.org/10.3171/ped.2007.106.6.490

    Article  PubMed  Google Scholar 

  35. Frassanito P, Massimi L, Tamburrini G et al (2013) Occipital sinus pericranii superseding both jugular veins: description of two rare pediatric cases. Neurosurgery 72:E1054–E1058; dicussion 1058. https://doi.org/10.1227/NEU.0b013e31828baab4

    Article  PubMed  Google Scholar 

  36. Thompson DN, Hayward RD, Harkness WJ et al (1995) Lessons from a case of kleeblattschädel. Case report. J Neurosurg 82:1071–1074. https://doi.org/10.3171/jns.1995.82.6.1071

    Article  CAS  PubMed  Google Scholar 

  37. Copeland AE, Hoffman CE, Tsitouras V, Jeevan DS, Ho ES, Drake JM, Forrest CR (2018) Clinical significance of venous anomalies in syndromic craniosynostosis. Plast Reconstr Surg Glob Open 6:e1613. https://doi.org/10.1097/GOX.0000000000001613

    Article  PubMed  PubMed Central  Google Scholar 

  38. Azzolini A, Magoon K, Yang R, Bartlett S, Swanson J, Taylor J (2020) Ventricular shunt complications in patients undergoing posterior vault distraction osteogenesis. Childs Nerv Syst 36:1009–1016. https://doi.org/10.1007/s00381-019-04403-w

    Article  PubMed  Google Scholar 

  39. Di Rocco C, Frassanito P (2014) Cranio-cerebral disproportion as a late complication. In: Di Rocco C, Turgut M, Jallo G, Martínez-Lage JF (eds) Complications of CSF shunting in hydrocephalus: prevention, identification, and management. Springer, Berlin

    Google Scholar 

  40. Sgulò FG, Spennato P, Aliberti F, di Martino G, Cascone D, Cinalli G (2017) Contemporary occurrence of hydrocephalus and Chiari I malformation in sagittal craniosynostosis. Case report and review of the literature. Childs Nerv Syst 33:187–192. https://doi.org/10.1007/s00381-016-3189-9

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Pediatric Neurosurgery, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168, Rome, Italy

    Paolo Frassanito & Gianpiero Tamburrini

  2. Università Cattolica del Sacro Cuore, Rome, Italy

    Davide Palombi & Gianpiero Tamburrini

Authors
  1. Paolo Frassanito
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Davide Palombi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Gianpiero Tamburrini
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Paolo Frassanito.

Ethics declarations

Conflict of interest

The authors declare that are no conflict of interest to disclose.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Frassanito, P., Palombi, D. & Tamburrini, G. Craniosynostosis and hydrocephalus: relevance and treatment modalities. Childs Nerv Syst 37, 3465–3473 (2021). https://doi.org/10.1007/s00381-021-05158-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-021-05158-z

Keywords

Search

Navigation