Skip to main content
SpringerLink
Log in

Long-term plasma exchange in a case of Refsum's disease

  • Original Articles
  • Published:
European Archives of Psychiatry and Clinical Neuroscience Aims and scope Submit manuscript

Summary

Refsum's disease (Heredopathia atactica polyneuritiformis) is caused by accumulation of phytanic acid in all body tissues due to an inherited failure of alphaoxidation of branched chain fatty acids. Plasmapheresis has been reported to be beneficial by removal of phytanic acid from the blood. We describe a patient with Refsum's disease in whom long-term plasmapheresis did not improve clinical, biochemical or electrophysiological parameters.

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. Allen IV, Smallow M, Nevin NC, McCormick D (1978) Clinicopathological study of Refsum's disease with particular reference to fatal complications. J Neurol Neurosurg Psychiatry 41:323–332

    Google Scholar 

  2. Malmendier CL, Jonniaux G, Voet W, Van den Bergen CJ (1974) Fatty acid composition of tissue in Refsum's disease (heredopathia atactica polyneuritiformis) Estimation of total phytanic acid accumulation. Biomedicine 20:398–407

    Google Scholar 

  3. Gibberd FB, Billimoria JD, Goldman JM, Clemens ME, Evans R, Whitelaw MN, Retsas S, Sherratt RM (1985) Heredopathia atactica polyneuritisformis: Refsum's disease. Acta Neurol Scand 72:1–17

    Google Scholar 

  4. Lundberg A, Lilja LG, Lundberg PO, Try K (1972) Heredopathia atactica polyneuritisformis (Refsum's disease): Experiences of dietary treatment and plasmapheresis. Eur Neurol 8:309–323

    Google Scholar 

  5. Penovich PE, Hollander J, Nusbacher JA, Griggs RC, Mac-Pherson J (1978) Note on plasma exchange therapy in Refsum's disease. Adv Neurol 21:151–153

    Google Scholar 

  6. Steinberg D, Mize CE, Herndon JH Jr, Fales HM, Engel WK, Vroom FQ (1970) Phytanic acid in patients with Refsum's syndrome and response to dietary treatment. Arch. Intern Med 125:75–78

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neurology, University Hospital and University Children's Hospital, Zurich, Switzerland

    W. Waespe

  2. Department of Internal Medicine, University Hospital and University Children's Hospital, Zurich, Switzerland

    D. Leppert, U. Schanz, J. Burger & J. Gmür

  3. Department of Pediatrics, University Hospital and University Children's Hospital, Zurich, Switzerland

    N. Blau

Authors
  1. D. Leppert
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. U. Schanz
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J. Burger
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J. Gmür
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. N. Blau
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. W. Waespe
    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

Leppert, D., Schanz, U., Burger, J. et al. Long-term plasma exchange in a case of Refsum's disease. Eur Arch Psychiatry Clin Nuerosci 241, 82–84 (1991). https://doi.org/10.1007/BF02191145

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02191145

Key words

Search

Navigation