Skip to main content
SpringerLink
Log in

Congenital hypomyelination with axonopathy

  • Neuropediatrics
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

We report a case of congenital neuropathy taking a rapidly fatal clinical course. Ultrastructural features of the peripheral nerve were unusual with sparsity of myelinated fibres, lack of “onion bulb” formation and presence of axonal damage. This case is compared with previously reported cases of early infantile neuropathy.

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

Similar content being viewed by others

References

  1. Anderson RM, Dennett X, Hopkins IJ, Shield LK (1973) Hypertrophic interstitial polyneuropathy in infancy. Clinical and pathologic features in two cases. J Pediatr 82:619–624

    Google Scholar 

  2. Guzzetta F, Ferrière G (1985) Congenital neuropathy with prevailing axonal changes. A clinical and histological report. Acta Neuropathol 68:185–190

    Google Scholar 

  3. Hakamada S, Kumagai T, Hara K, Miyazaki S, Miyazaki K, Watanabe K (1983) Congenital hypomyelination neuropathy in a newborn. Neuropediatrics 14:182–183

    Google Scholar 

  4. Harati Y, Butler IJ (1985) Congenital hypomyelinating neuropathy. J Neurol Neurosurg Psychiatr 48:1269–1276

    Google Scholar 

  5. Kennedy WR, Sung JH, Berry JF (1977) A case of congenital hypomyelination neuropathy. Arch Neurol 34:337–345

    Google Scholar 

  6. Lyon G (1969) Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy. Acta Neuropathol 13:131–142

    Google Scholar 

  7. Ono J, Senba E, Okada S, Abe J, Futagi Y, Shimizu H, Sugita T, Hashimoto S, Yabuuchi H (1982) A case report of congenital hypomyelination. Eur J Pediatr 138:265–270

    Google Scholar 

  8. Palix C, Coignet J (1978) Un cas de polyneuropathie périphérique néo-natale par amyélinisation. Pediatrie 33:201–207

    Google Scholar 

  9. Schröder JM, Bohl J (1978) Altered ratio between axon caliber and myelin thickness in sural nerves of children. In: Canal N, Pozza G (eds) Peripheral neuropathies. Biomedical Press, Elsevier/North-Holland, pp 49–62

  10. Vital A, Vital C, Rivière JP, Brechenmacher C, Marot J (1987) Variability of morphological features in early infantile polyneuropathy with defective myelination. Acta Neuropathol 73:295–300

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Laboratoire d'Anatomie Pathologique, Hôpital Pellegrin, Place Amélie-Raba-Léon, F-33076, Bordeaux Cedex, France

    A. Vital, C. Vital & M. Coquet

  2. Centre Hospitalier de la Côte Basque, Bayonne, France

    X. Hernandorena

  3. Service de Pédiatrie, Centre Hospitalier de Bordeaux, Bordeaux, France

    J. M. Demarquez

Authors
  1. A. Vital
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. C. Vital
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. Coquet
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. X. Hernandorena
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. M. Demarquez
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Vital, A., Vital, C., Coquet, M. et al. Congenital hypomyelination with axonopathy. Eur J Pediatr 148, 470–472 (1989). https://doi.org/10.1007/BF00595918

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00595918

Key words

Search

Navigation