Neurological Considerations in Achondroplasia

  • Orest Hurko
  • Reed Pyeritz
  • Sumio Uematsu
Part of the Basic Life Sciences book series (BLSC, volume 48)


In achondroplasia, neurological dysfunction is a major cause of morbidity and mortality. Fortunately, problems arise not because of dysgenesis of nervous tissue, but are secondary tc bony compression of neural and associated vascular structures, and, therefore, are often amenable to prophylactic or remedial treatment. Furthermore, because the neural compressive syndromes of achondroplasia are highly stereotyped, their recognition and appropriate management are facilitated.


Central Sleep Apnea Craniocervical Junction Normal Pressure Hydrocephalus Foramen Magnum Decompressive Laminectomy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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  1. 1.
    W. E. Dandy, Hydrocephalus in chondrodystrophy. Bull. Johns Hopkins Hospital 32:5 (1921).Google Scholar
  2. 2.
    L. O. Langer, Jr, P. A. Baumann and R. J. Gorlin, Achondroplasia, Am. J. Roentgenol. 100:12 (1967).Google Scholar
  3. 3.
    J. P. Dennis, H. S. Rosenberg and E. C. Alvord, Jr., Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia, Brain 84:427 (1961).PubMedCrossRefGoogle Scholar
  4. 4.
    A. B. Todorov, C. I. Scott, Jr, A. E. Warren and J. D. Leeper, Developmental screening tests in achondroplastic children. Am. J. Med. Genet. 9:19 (1981).PubMedCrossRefGoogle Scholar
  5. 5.
    W. A. Horton, J. I. Rotter, D. L. Rimoin, C. I. Scott and J. G. Hall, Standard growth curves for achondroplasia, J. of Pediatrics 93:435 (1978).CrossRefGoogle Scholar
  6. 6.
    S. M. Mueller, W. Bell, S. Cornell, K. J. Hamsher and K. Dolan, Achondroplasia and hydrocephalus: a computerized tomographic, roentgenographic and psychometric study. Neurology 27:430 (1977).PubMedGoogle Scholar
  7. 7.
    W. A. Friedman and J. P. Mickle, ‘-Hydrocephalus in achondroplasia: a possible mechanism. Neurosurgery 7:150 (1980).PubMedCrossRefGoogle Scholar
  8. 8.
    H. Yamada, S. Nakamura, M. Tajima and N. Kageyama, Neurological manifestations of pediatric achondroplasia, J. Neurosurgery 54:49 (1981).CrossRefGoogle Scholar
  9. 9.
    E. A. Bering, Jr. and B. Salibi, Production of hydrocephalus by increased cephalic-venous pressure, Arch. Neurol. Psychiatry 81:693 (1959).Google Scholar
  10. 10.
    R. Hooper, Hydrocephalus and obstruction of the superior vena cava in infancy. Pediatrics 28:792 (1961).PubMedGoogle Scholar
  11. 11.
    D. R. Steward, D. G. Johnson and G. G. Myers, Hydrocephalus as a complication of jugular catheterization during total parenteral nutrition, J. Pediatric Surgery 10:771 (1975).CrossRefGoogle Scholar
  12. 12.
    K. Bergstrom, V. Laurent and P. O. Lundberg, Neurological symptoms in achondroplasia, Acta Neurol. Scandinavica 47:59 (1971).CrossRefGoogle Scholar
  13. 13.
    W. C. G. Plandsoen, D. A. De Jong, A. I. R. Maas, H. Stroink and J. H. M. Van Eijndhoven, The pressure depth curve in anterior fontanelle pressure monitoring, in: “Intracranial Pressure VI”, J. D. Miller, G. M. Teasdale, J. O. Ravan, S. L. Galbraith and A. D. Mendelow, eds., Springer-Verlag, Berlin (1986).Google Scholar
  14. 14.
    J. B. North and P. L. Reilly, A comparison between three methods of ICP recording, in: “Intracranial Pressure VI”, J. D. Miller, G. M. Teasdale, J. O. Ravan, S. L. Galbraith and A. D. Mendelow, eds. Springer-Verlag, Berlin (1986).Google Scholar
  15. 15.
    S. E. Borgenson, F. Gjerris and S. C. Sorenson, Intracranial pressure and conductance to outflow of cerebrospinal fluid in normal pressure hydrocephalus, J. Neurosurg. 50:489 (1979).CrossRefGoogle Scholar
  16. 16.
    N. Lundberg, Continuous recording and control of ventricular fluid pressure in neurosurgical practice, Acta Psych. Neurol. Scand. suppl. 149:36 (1960).Google Scholar
  17. 17.
    I. G. McQuarrie, L. Saint-Louis and P. B. Scherer, Treatment of normal pressure hydrocephalus with low versus medium pressure cerebrospnal fluid shunts. Neurosurgery 15:484 (1984).PubMedCrossRefGoogle Scholar
  18. 18.
    M. H. Epstein, Surgical management of hydrocephalus, in: “Operative Neurosurgical Techniques”, Vol. I, H. H. Schmidek and W. H. Sweet, pp. 49–62, Grune and Stratton, New York (1982)Google Scholar
  19. 19.
    J. D. Bland and J. L. Emery, Unexpected death of children with achondroplasia after the perinatal period, Develop. Med. Child Neurol. 24:489 (1982).PubMedCrossRefGoogle Scholar
  20. 20.
    R. M. Pauli, C. I. Scott, E. R. Wassman, Jr., E. F. Gilbert, L. A. Leavitt, J. Ver Hoeve, J. G. Hall, M. W. Partington, K. L. Jones, A. Sommer, W. Feldman, L. O. Langer, D. L. Rimoin, J. T. Hecht and R. Lebovitz, Apnea and sudden unexpected death in infants with achondroplasia, J. Ped. 104:342 (1984).Google Scholar
  21. 21.
    J. T. Hecht, C. A. Francomano, W. A. Horton and J. F. Annegers, Altered pattern of mortality in achondroplasia. Am. J. Hum. Genetics 39:3 suppl. A65 (1984).Google Scholar
  22. 22.
    J. T. Hecht, I. J. Butler and C. I. Scott, Jr., Longterm neurological sequelae in achondroplasia, European J. Pediatrics 143:58 (1984).CrossRefGoogle Scholar
  23. 23.
    M. Marin-Padilla and T. M. Marin-Padilla, Developmental abnormalities of the occipital bone in human chondrodystrophies (achondroplasia and thanatophoric dwarfism), Birth Defects, Original Article Series 13:7 (1977).Google Scholar
  24. 24.
    J. T. Hecht, F. W. Nelson, I. J. Butler, W. A. Horton, C. I. Scott, R. Wassman, C. M. Mehringer, D. L. Rimoin and R. M. Pauli, Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards. Am. J. Med. Genetics 20:355 (1985).CrossRefGoogle Scholar
  25. 25.
    S. S. Yang, D. P. Corbett, A., J. Brough, K. P. Heidelberger and J. Bernstein, Upper cervical myelopathy in achondroplasia. Am. J. Clin. Path. 68:68 (1977).PubMedGoogle Scholar
  26. 26.
    A. Bosch, E. S. Stauffer and V. L. Nicket, Incomplete traumatic paraplegia: a ten year review, JAMA 216:473 (1971).PubMedCrossRefGoogle Scholar
  27. C. Reid et al., this volume.Google Scholar
  28. H. Wang, A. E. Rosenbaum, C. R. Reid, S. J. Zinreich afid R. E. Pyeritz, CT evaluation of the cranio-cervical junction in pediatric patients with achondroplasia, Radiology, in press (1987).Google Scholar
  29. 29.
    F. W. Nelson, W. D. Goldie, J. T. Hecht, I. J. Butler and C. I. Scott, Short latency somatosensory evoked potentials in the management of patients with achondroplasia. Neurology 34:1053 (1984).PubMedGoogle Scholar
  30. 30.
    L. D. Lutter, J. E. Lonstein, R. B. Winter and L. O. Langer, Anatomy of the achondroplastic lumbar canal. Clinical Orthopedics and Related Research 26:139 (1977).Google Scholar
  31. 31.
    L. O. Langer, P. A. Baumann and R. J. Gorlin, Achondroplasia, Am. J. Roentgenology 100:12 (1967).Google Scholar
  32. 32.
    A. A. Siebens, D. S. Hungerford and N. A. Kirby, Curves of the achondroplastic spine: a new hypothesis. The Johns Hopkins Medical Journal 142:205 (1978).PubMedGoogle Scholar
  33. 33.
    R. A. Suss, G. B. Udvarhelyi, H. Wang, A. J. Kumar, S. J. Zinreich and A. E. Rosenbaum, Myelography in achondroplasia: value of a lateral Cl-2 puncture and non-ionic water-soluble contrast medium. Radiology 149:159 (1983).PubMedGoogle Scholar
  34. E. Streeten, S. Uematsu, 0. Hurko, S. Kopits, E. Murphy and R. Pyeritz, Extended laminectomy for spinal stenosis in achondroplasia. In this volume.Google Scholar

Copyright information

© Plenum Press, New York 1988

Authors and Affiliations

  • Orest Hurko
    • 1
  • Reed Pyeritz
    • 1
  • Sumio Uematsu
    • 1
  1. 1.The Johns Hopkins University School of MedicineBaltimoreUSA

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