Pathogenesis of hydrocephalus in achondroplastic dwarfs: a review and presentation of a case followed for 22 years

Abstract

Object

The purpose of this work is to review the pathogenesis and pathophysiology of hydrocephalus in patients with achondroplasia as a guide to its management throughout life.

Methods

A review of the literature related to neurosurgical issues in achondroplasia with specific focus on cerebrospinal fluid physics, clinical management, and outcome of affected individuals. Issues involved in this review are highlighted by a case report of a patient shunted for achondroplasia first shunted in infancy and followed for 22 years. Each of the management issues is explored with respect to this patient.

Findings

Head circumferences in achondroplasia are abnormally large in this condition usually caused by excess cerebrospinal fluid in the cortical subarachnoid space. Increase in ventricular size (hydrocephalus) is not rare but should not be treated unless rapidly progressive or symptomatic. The underlying cause of the abnormalities of cerebrospinal fluid dynamics relates to abnormal venous drainage at the skull base. Patients shunted in infancy for hydrocephalus usually remain dependent on the shunt for life, and crises of high intracranial pressure may occur with no distention of the ventricles.

Conclusions

In infants with achondroplasia, large heads and enlarged ventricles without symptoms should be watched initially for progression. If hydrocephalus progresses or if symptoms of intracranial hypertension occur, endoscopic third ventriculostomy can be tried. If shunt is necessary, it should have a high opening pressure and a device to retard siphoning. In the case of recurrent ventricular catheter blockage, it may be necessary to create a communication between the ventricles and the cortical subarachnoid space.

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

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

References

  1. 1.

    Ramakrishnan VR, Steinbok P (2018) Hydrocephalus in achondroplasia and venous hypertension. In: Cinalli G, Sgouros S (eds) Pediatric hydrocephalus. Springer International Publishing, pp 1–24

  2. 2.

    Steinbok P, Hall J, Flodmark O (1989) Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg 71(1):42–48

    Article  CAS  PubMed  Google Scholar 

  3. 3.

    Bosemani T, Orman G, Hergan B, Carson KA, Huisman TA, Poretti A (2015) Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. Childs Nerv Syst 31(1):129–133

    Article  PubMed  Google Scholar 

  4. 4.

    Lundar T, Bakke SJ, Nornes H (1990) Hydrocephalus in an achondroplastic child treated by venous decompression at the jugular foramen. Case report. J Neurosurg 73(1):138–140

    Article  CAS  PubMed  Google Scholar 

  5. 5.

    Sainte-Rose C, Servant JM, Mayer M, Hirsch JF (1989) Hydrocephalus of venous origin. Neurochirurgie 35(6):383–389 410

    CAS  PubMed  Google Scholar 

  6. 6.

    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(4):727–736

    Article  CAS  PubMed  Google Scholar 

  7. 7.

    Swift D, Nagy L, Robertson B (2012) Endoscopic third ventriculostomy in hydrocephalus associated with achondroplasia. J Neurosurg Pediatr 9(1):73–81

    Article  PubMed  Google Scholar 

  8. 8.

    Etus V, Ceylan S (2005) The role of endoscopic third ventriculostomy in the treatment of triventricular hydrocephalus seen in children with achondroplasia. J Neurosurg 103(3 Suppl):260–265

    PubMed  Google Scholar 

  9. 9.

    Nugent GR, Al-Mefty O, Chou S (1979) Communicating hydrocephalus as a cause of aqueductal stenosis. J Neurosurg 51(6):812–818

    Article  CAS  PubMed  Google Scholar 

  10. 10.

    King JA, Vachhrajani S, Drake JM, Rutka JT (2009) Neurosurgical implications of achondroplasia. J Neurosurg Pediatr 4(4):297–306

    Article  PubMed  Google Scholar 

  11. 11.

    Moss ML (1975) Functional anatomy of cranial synostosis. Childs Brain 1(1):22–33

    CAS  PubMed  Google Scholar 

  12. 12.

    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(1):198–202

    Article  CAS  PubMed  Google Scholar 

  13. 13.

    Pollay M (2010) The function and structure of the cerebrospinal fluid outflow system. Cerebrospinal Fluid Res 7:9

    Article  PubMed  PubMed Central  Google Scholar 

  14. 14.

    Pollay M (2012) Overview of the CSF dual outflow system. Acta Neurochir Suppl 113:47–50

    Article  PubMed  Google Scholar 

  15. 15.

    Shulman K, Ransohoff J (1965) Sagittal sinus venous pressure in hydrocephalus. J Neurosurg 23(2):169–173

    Article  CAS  PubMed  Google Scholar 

  16. 16.

    Priestley BL, Lorber J (1981) Ventricular size and intelligence in achondroplasia. Z Kinderchir 34(4):320–326

    CAS  PubMed  Google Scholar 

  17. 17.

    Ireland PJ, Ware RS, Donaghey S, McGill J, Zankl A, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, Johnston LM (2013) The effect of height, weight and head circumference on gross motor development in achondroplasia. J Paediatr Child Health 49(2):E122–E127

    Article  PubMed  Google Scholar 

  18. 18.

    Tofts L, Das S, Collins F, Burton KLO (2017) Growth charts for Australian children with achondroplasia. Am J Med Genet A 173(8):2189–2200

    Article  CAS  PubMed  Google Scholar 

  19. 19.

    Merker A, Neumeyer L, Hertel NT, Grigelioniene G, Makitie O, Mohnike K et al (2018) Growth in achondroplasia: development of height, weight, head circumference, and body mass index in a European cohort. Am J Med Genet A 176(8):1723–1734

    Article  PubMed  Google Scholar 

  20. 20.

    Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG (1978) Standard growth curves for achondroplasia. J Pediatr 93(3):435–438

    Article  CAS  PubMed  Google Scholar 

  21. 21.

    Rekate HL (2009) A contemporary definition and classification of hydrocephalus. Semin Pediatr Neurol 16(1):9–15

    Article  PubMed  Google Scholar 

  22. 22.

    Rekate HL (2008) The definition and classification of hydrocephalus: a personal recommendation to stimulate debate. Cerebrospinal Fluid Res 5:2

    Article  PubMed  PubMed Central  Google Scholar 

  23. 23.

    Kulkarni AV, Schiff SJ, Mbabazi-Kabachelor E, Mugamba J, Ssenyonga P, Donnelly R, Levenbach J, Monga V, Peterson M, MacDonald M, Cherukuri V, Warf BC (2017) Endoscopic treatment versus shunting for infant hydrocephalus in Uganda. N Engl J Med 377(25):2456–2464

    Article  PubMed  PubMed Central  Google Scholar 

  24. 24.

    Erdincler P, Dashti R, Kaynar MY, Canbaz B, Ciplak N, Kuday C (1997) Hydrocephalus and chronically increased intracranial pressure in achondroplasia. Childs Nerv Syst 13(6):345–348

    Article  CAS  PubMed  Google Scholar 

  25. 25.

    Rekate HL (1993) Classification of slit-ventricle syndromes using intracranial pressure monitoring. Pediatr Neurosurg 19(1):15–20

    Article  CAS  PubMed  Google Scholar 

  26. 26.

    Rekate HL, Nadkarni TD, Wallace D (2008) The importance of the cortical subarachnoid space in understanding hydrocephalus. J Neurosurg Pediatr 2(1):1–11

    Article  PubMed  Google Scholar 

  27. 27.

    McNatt SA, Kim A, Hohuan D, Krieger M, McComb JG (2008) Pediatric shunt malfunction without ventricular dilatation. Pediatr Neurosurg 44(2):128–132

    Article  PubMed  Google Scholar 

  28. 28.

    Albright AL, Tyler-Kabara E (2001) Slit-ventricle syndrome secondary to shunt-induced suture ossification. Neurosurgery 48(4):764–769 discussion 9-70

    CAS  PubMed  Google Scholar 

  29. 29.

    Epstein F, Lapras C, Wisoff JH (1988) Slit-ventricle syndrome’: etiology and treatment. Pediatr Neurosci 14(1):5–10

    Article  CAS  PubMed  Google Scholar 

  30. 30.

    Miller JP, Cohen AR, Rekate HL (2010) Slit ventricle syndrome. In: Jallo GI, Kothbauer KF, Pradilla G (eds) Controversies in pediatric neurosurgery. Thieme Medical Publisher, Inc., New York, pp 51–72

    Google Scholar 

  31. 31.

    Le H, Yamini B, Frim DM (2002) Lumboperitoneal shunting as a treatment for slit ventricle syndrome. Pediatr Neurosurg 36(4):178–182

    Article  PubMed  Google Scholar 

  32. 32.

    Rekate HL (2004) The slit ventricle syndrome: advances based on technology and understanding. Pediatr Neurosurg 40(6):259–263

    Article  PubMed  Google Scholar 

  33. 33.

    Nadkarni TD, Rekate HL (2005) Treatment of refractory intracranial hypertension in a spina bifida patient by a concurrent ventricular and cisterna magna-to-peritoneal shunt. Childs Nerv Syst 21(7):579–582

    Article  PubMed  Google Scholar 

  34. 34.

    Rekate HL, Nadkarni T, Wallace D (2006) Severe intracranial hypertension in slit ventricle syndrome managed using a cisterna magna-ventricle-peritoneum shunt. J Neurosurg 104(4 Suppl):240–244

    PubMed  Google Scholar 

  35. 35.

    Engel M, Carmel PW, Chutorian AM (1979) Increased intraventricular pressure without ventriculomegaly in children with shunts: “normal volume” hydrocephalus. Neurosurgery. 5(5):549–552

    Article  CAS  PubMed  Google Scholar 

  36. 36.

    Hamilton MG, Price AV (2012) Syndrome of inappropriately low-pressure acute hydrocephalus (SILPAH). Acta Neurochir Suppl 113:155–159

    Article  PubMed  Google Scholar 

  37. 37.

    Filippidis AS, Kalani MY, Nakaji P, Rekate HL (2011) Negative-pressure and low-pressure hydrocephalus: the role of cerebrospinal fluid leaks resulting from surgical approaches to the cranial base. J Neurosurg 115(5):1031–1037

    Article  PubMed  Google Scholar 

Download references

Author information

Affiliations

Authors

Corresponding author

Correspondence to Harold L. Rekate.

Ethics declarations

Conflict of interest

I the author of this review attest that I have no conflicts of interest related to any aspect of the paper.

Harold L. Rekate

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

Verify currency and authenticity via CrossMark

Cite this article

Rekate, H.L. Pathogenesis of hydrocephalus in achondroplastic dwarfs: a review and presentation of a case followed for 22 years. Childs Nerv Syst 35, 1295–1301 (2019). https://doi.org/10.1007/s00381-019-04227-8

Download citation

Keywords

  • Hydrocephalus
  • Achondroplastic dwarfs
  • Endoscopic third ventriculostomy
  • Slit ventricle syndrome