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[Refsum's disease: evolution 35 years after diagnosis].

V Marcaud1, B Defontaines, P Jung

  • 1Service de neurologie, Hôpital Saint-Joseph, 75014 Paris, France.

Revue Neurologique
|April 20, 2002
PubMed
Summary

Refsum's disease, a phytanic acid accumulation disorder, typically causes neurological and visual issues. A long-term case showed only visual impairment after 35 years, suggesting variable disease progression.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Refsum's disease (Heredopathia atactica polyneuritiformis) is an autosomal recessive disorder.
  • It results from impaired alpha oxidation of phytanic acid due to Phytanoyl-Co-A alpha hydroxylase deficiency.
  • Accumulated phytanic acid leads to retinitis pigmentosa, neuropathy, and ataxia.

Observation:

  • A patient diagnosed with Refsum's disease in 1965 presented with facial paralysis.
  • Phytanic acid levels were low, and CSF protein was normal, initially suggesting Bell's palsy.
  • This occurred 35 years after the initial diagnosis.

Findings:

  • The patient's long-term condition (35 years post-diagnosis) was primarily visual impairment.
  • Notably, there was no significant loss of muscle strength or sensory deficit.

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  • This contrasts with the typical progressive neurological symptoms of Refsum's disease.

    • Implications:

    • This case highlights potentially variable long-term clinical manifestations of Refsum's disease.
    • It suggests that neurological symptoms may not always progress over decades.
    • Further long-term follow-up studies are needed to understand the full spectrum of Refsum's disease.
    • Dietary management improves neurological symptoms but not retinal changes.