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Craniovertebral Junction Anomalies in Achondroplastic Children

  • Vincent Reina
  • Genevieve Baujat
  • Brigitte Fauroux
  • Vincent Couloigner
  • Elise Boulanger
  • Christian Sainte-Rose
  • Philippe Maroteaux
  • Martine Le Merrer
  • Valérie Cormier-Daire
  • Laurence Legai-Mallet
  • Michel Zerah
  • Federico Di Rocco
Chapter
Part of the Advances and Technical Standards in Neurosurgery book series (NEUROSURGERY, volume 40)

Abstract

The natural history of CVJ stenosis in achondroplastic children is only partially known. Achondroplastic children have a foramen magnum that is significatively smaller at birth, and it does not follow the normal growth during the first 18 months of life, leading to CVJ stenosis and, for the most severe of them, to neurological and developmental impairment and delay and even sudden death due to cervicomedullary narrowing. We reviewed our experience based on 37 patients operated for cervicomedullary decompression between 1970 and 2010 and performed a literature review. The indication for surgery should be taken on very strict clinical and radiological parameters as well as sleep studies. Under those criteria, surgical decompression of CVJ leads to neurological and developmental improvement, despite non-negligible mortality and morbidity.

Keywords

Achondroplasia Cranio-cervical junction Sudden death Foramen magnum decompression 

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Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  • Vincent Reina
    • 1
  • Genevieve Baujat
    • 2
  • Brigitte Fauroux
    • 3
    • 4
  • Vincent Couloigner
    • 3
  • Elise Boulanger
    • 1
  • Christian Sainte-Rose
    • 1
  • Philippe Maroteaux
    • 2
  • Martine Le Merrer
    • 2
  • Valérie Cormier-Daire
    • 2
  • Laurence Legai-Mallet
    • 2
  • Michel Zerah
    • 1
  • Federico Di Rocco
    • 1
  1. 1.Pediatric Neurosurgical DepartementHôpital Necker-Enfants Malades, APHPParisFrance
  2. 2.Genetic DepartmentNational Reference Centre for Congenital Bone Diseases, Hôpital Necker-Enfants Malades, INSERM U781ParisFrance
  3. 3.Otorhinolaryngology DepartmentHôpital Necker-Enfants MaladesParisFrance
  4. 4.Unité de ventilation non-invasive et du sommeil de l’enfant, INSERM U 955, Hôpital Necker-Enfants MaladesParisFrance

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