Skip to main content
SpringerLink
Log in

Surgical treatment for cervicomedullary compression among infants with achondroplasia

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

Abstract

Purpose

Achondroplasia is the most common form of dwarfism. Respiratory failure is responsible for most deaths among these children and is often related to cervicomedullary compression (CMC). We present our experience with early cervicomedullary decompression in infants with achondroplasia.

Methods

Data was retrospectively collected for infants with achondroplasia who underwent CMC decompression between 1998 and 2013. Data included presurgical and postsurgical neurological examinations, MRI scans, and sleep study results.

Results

Ten infants were included. Ages at surgery were 4 to 23 months (12.5 ± 6.88 months). All infants displayed neurological findings prior to surgery, although often subtle. All infants underwent a foramen magnum opening with a wide C1 laminectomy. Following surgery, seven patients (70 %) demonstrated improved neurological status, and one displayed neurological deterioration. Seven patients demonstrated improved sleep quality 1 year after surgery. These patients had a good or improved neurological status following surgery. Preoperative radiological findings included abnormal hyperintense T2 changes in all children (improved following surgery in six children), brainstem distortion in four children (improved in all), and diminished cerebrospinal fluid (CSF) spaces at the level of the foramen magnum in eight children (improved in seven). One child with extensive preoperative T2 changes accompanied by neurological and respiratory decline, deteriorated following surgery, and remains chronically ventilated.

Conclusions

Infants with achondroplasia are prone to neurological and respiratory symptoms. We believe that early diagnosis and early surgery for decompression of the foramen magnum and C1 lamina can alleviate respiratory symptoms, improve neurological status, and perhaps prevent sudden infant death in this population.

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

Similar content being viewed by others

References

  1. Yamada H, Nakamura S, Tajima M, Kageyama N (1981) Neurological manifestations of pediatric achondroplasia. J Neurosurg 54:49–57

    Article  CAS  PubMed  Google Scholar 

  2. Trotter TL, Hall JG, American Academy of Pediatrics Committee on G (2005) Health supervision for children with achondroplasia. Pediatrics 116:771–783

    Article  PubMed  Google Scholar 

  3. Morgan DF, Young RF (1980) Spinal neurological complications of achondroplasia. Results of surgical treatment. J Neurosurg 52:463–472

    Article  CAS  PubMed  Google Scholar 

  4. Hecht JT, Francomano CA, Horton WA, Annegers JF (1987) Mortality in achondroplasia. Am J Hum Genet 41:454–464

    PubMed Central  CAS  PubMed  Google Scholar 

  5. Nelson FW, Hecht JT, Horton WA, Butler IJ, Goldie WD, Miner M (1988) Neurological basis of respiratory complications in achondroplasia. Ann Neurol 24:89–93

    Article  CAS  PubMed  Google Scholar 

  6. Rimoin DL (1995) Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet 56:824–827

    PubMed Central  CAS  PubMed  Google Scholar 

  7. Thomas IT, Frias JL, Williams JL, Friedman WA (1988) Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Am J Dis Child 142:989–992

    CAS  PubMed  Google Scholar 

  8. Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL (2007) Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. J Neurosurg 107:504–507

    Article  PubMed  Google Scholar 

  9. Afsharpaiman S, Saburi A, Waters KA (2013) Respiratory difficulties and breathing disorders in achondroplasia. Paediatr Respir Rev 14:250–255

    CAS  PubMed  Google Scholar 

  10. Bagley CA, Pindrik JA, Bookland MJ, Camara-Quintana JQ, Carson BS (2006) Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg 104:166–172

    PubMed  Google Scholar 

  11. Mukherjee D, Pressman BD, Krakow D, Rimoin DL, Danielpour M (2014) Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. J Neurosurg Pediatr 14:238–244

    Article  PubMed  Google Scholar 

  12. Benglis DM, Sandberg DI (2007) Acute neurological deficit after minor trauma in an infant with achondroplasia and cervicomedullary compression. Case report and review of the literature. J Neurosurg 107:152–155

    PubMed  Google Scholar 

  13. (1996) Standards and indications for cardiopulmonary sleep studies in children. American Thoracic Society. Am J Respir Crit Care Med 153:866–878

  14. Uliel S, Tauman R, Greenfeld M, Sivan Y (2004) Normal polysomnographic respiratory values in children and adolescents. Chest 125:872–878

    Article  PubMed  Google Scholar 

  15. Muzumdar H, Arens R (2008) Diagnostic issues in pediatric obstructive sleep apnea. Proc Am Thorac Soc 5:263–273

    Article  PubMed Central  PubMed  Google Scholar 

  16. Berry RB, Budhiraja R, Gottlieb DJ, Gozal D, Iber C, Kapur VK, Marcus CL, Mehra R, Parthasarathy S, Quan SF, Redline S, Strohl KP, Davidson Ward SL, Tangredi MM, American Academy of Sleep M (2012) Rules for scoring respiratory events in sleep: update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events. Deliberations of the Sleep Apnea Definitions Task Force of the American Academy of Sleep Medicine. J Clin Sleep Med JCSM Off Publ Am Acad Sleep Med 8:597–619

    Google Scholar 

  17. (1995) Health supervision for children with achondroplasia. American Academy of Pediatrics Committee on Genetics. Pediatrics 95:443–451

  18. Keiper GL Jr, Koch B, Crone KR (1999) Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg 31:78–83

    Article  PubMed  Google Scholar 

  19. Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, Brown DL (1983) Respiratory complications of achondroplasia. J Pediatr 102:534–541

    Article  CAS  PubMed  Google Scholar 

  20. Reid CS, Pyeritz RE, Kopits SE, Maria BL, Wang H, McPherson RW, Hurko O, Phillips JA 3rd, Rosenbaum AE (1987) Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. J Pediatr 110:522–530

    Article  CAS  PubMed  Google Scholar 

  21. Mogayzel PJ Jr, Carroll JL, Loughlin GM, Hurko O, Francomano CA, Marcus CL (1998) Sleep-disordered breathing in children with achondroplasia. J Pediatr 132:667–671

    Article  PubMed  Google Scholar 

  22. Waters KA, Everett F, Sillence DO, Fagan ER, Sullivan CE (1995) Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. Am J Med Genet 59:460–466

    Article  CAS  PubMed  Google Scholar 

  23. Hecht JT, Thompson NM, Weir T, Patchell L, Horton WA (1991) Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates. Am J Med Genet 41:208–211

    Article  CAS  PubMed  Google Scholar 

  24. Hill CM, Hogan AM, Karmiloff-Smith A (2007) To sleep, perchance to enrich learning? Arch Dis Child 92:637–643

    Article  PubMed Central  PubMed  Google Scholar 

  25. Wang H, Rosenbaum AE, Reid CS, Zinreich SJ, Pyeritz RE (1987) Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. Radiology 164:515–519

    Article  CAS  PubMed  Google Scholar 

  26. Hecht JT, Horton WA, Reid CS, Pyeritz RE, Chakraborty R (1989) Growth of the foramen magnum in achondroplasia. Am J Med Genet 32:528–535

    Article  CAS  PubMed  Google Scholar 

  27. Horton WA, Hall JG, Hecht JT (2007) Achondroplasia. Lancet 370:162–172

    Article  CAS  PubMed  Google Scholar 

  28. Ireland PJ, Johnson S, Donaghey S, Johnston L, Ware RS, Zankl A, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, McGill J (2012) Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0–5 years. J Paediatr Child Health 48:443–449

    Article  PubMed  Google Scholar 

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

    Article  PubMed  Google Scholar 

  30. Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr (1998) Medical complications of achondroplasia: a multicentre patient review. J Med Genet 35:705–712

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  31. Afsharpaiman S, Sillence DO, Sheikhvatan M, Ault JE, Waters K (2011) Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. Sleep Breath 15:755–761

    Article  PubMed  Google Scholar 

  32. Ednick M, Tinkle BT, Phromchairak J, Egelhoff J, Amin R, Simakajornboon N (2009) Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr 155:510–515

    Article  PubMed  Google Scholar 

  33. Pauli RM, Scott CI, Wassman ER Jr, Gilbert EF, Leavitt LA, Ver Hoeve J, Hall JG, Partington MW, Jones KL, Sommer A et al (1984) Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 104:342–348

    Article  CAS  PubMed  Google Scholar 

  34. Pauli RM, Horton VK, Glinski LP, Reiser CA (1995) Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 56:732–744

    PubMed Central  CAS  PubMed  Google Scholar 

  35. Simmons K, Hashmi SS, Scheuerle A, Canfield M, Hecht JT (2014) Mortality in babies with achondroplasia: revisited. Birth Defects Res A Clin Mol Teratol 100:247–249

    Article  CAS  PubMed  Google Scholar 

  36. Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT (2007) Mortality in achondroplasia study: a 42-year follow-up. Am J Med Genet A 143A:2502–2511

    Article  PubMed  Google Scholar 

  37. Hecht JT, Butler IJ, Scott CI Jr (1984) Long-term neurological sequelae in achondroplasia. Eur J Pediatr 143:58–60

    Article  CAS  PubMed  Google Scholar 

Download references

Conflict of interest

None

Author information

Authors and Affiliations

  1. Department of Pediatric Neurosurgery, Dana Children’s Hospital, Tel Aviv Medical Center, Tel Aviv University, 6 Weizman Street, Tel Aviv, 64239, Israel

    Nir Shimony, Shlomi Constantini & Jonathan Roth

  2. Pediatric Radiology Unit, Department of Radiology, Dana Children’s Hospital, Tel Aviv Medical Center, Tel Aviv University, Tel Aviv, Israel

    Liat Ben-Sira

  3. Department of Pediatric Pulmonology, Critical Care and Sleep Medicine, Dana Children’s Hospital, Tel Aviv Medical Center, Tel Aviv University, Tel Aviv, Israel

    Yakov Sivan

Authors
  1. Nir Shimony
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Liat Ben-Sira
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Yakov Sivan
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Shlomi Constantini
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Jonathan Roth
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jonathan Roth.

Additional information

There are no prior publications or submissions with any overlapping information including studies and patients

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Shimony, N., Ben-Sira, L., Sivan, Y. et al. Surgical treatment for cervicomedullary compression among infants with achondroplasia. Childs Nerv Syst 31, 743–750 (2015). https://doi.org/10.1007/s00381-015-2624-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-015-2624-7

Keywords

Search

Navigation