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Related Experiment Videos

Hereditary sensory neuropathy type II without trophic changes.

A M Bye1, W D Baker, J Pollard

  • 1Department of Neurology, Prince of Wales Children's Hospital, Randwick, N.S.W., Australia.

Developmental Medicine and Child Neurology
|February 1, 1990
PubMed
Summary

Hereditary sensory neuropathy type II (HSN II) is a rare condition. This study reports three unusual HSN II cases lacking typical trophic changes, presenting instead with scoliosis or abnormal gait.

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Hereditary sensory neuropathies (HSNs) are a group of genetic disorders affecting peripheral nerves.
  • Hereditary sensory neuropathy type II (HSN II) is characterized by sensory loss, autonomic dysfunction, and often, self-mutilation and trophic limb changes.
  • Neurophysiological testing and nerve biopsies are crucial for diagnosing HSN II.

Observation:

  • Three patients presented with sensory peripheral neuropathies.
  • Clinical manifestations included scoliosis (Case 1) and abnormal gait (Cases 2 and 3).
  • Notably, none of the patients exhibited trophic limb changes, weakness, or self-mutilation.

Findings:

  • Neurophysiological testing revealed normal motor studies in all cases.

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  • Sural nerve biopsies demonstrated a severe loss of myelinated nerve fibers.
  • Muscle biopsy in Case 3 indicated evidence of denervation.

    • Implications:

    • These cases highlight atypical presentations of HSN II, challenging the classic phenotype.
    • The absence of trophic changes in these HSN II patients suggests potential phenotypic variability.
    • Further research is needed to understand the genetic and clinical spectrum of HSN II.