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Heredopathia atactica polyneuritiformis (Refsum’s Disease): Experiences of Dietary Treatment and Plasmapheresis
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine.
1972 (English)In: European Neurology, ISSN 0014-3022, E-ISSN 1421-9913, Vol. 8, no 6, 309-324 p.Article in journal (Refereed) Published
Abstract [en]

The clinical data of two patients with Refsum’s disease are presented. All the cardinal symptoms and signs were present. In addition the patients had fingernails which showed peculiar abnormalities. The dietary treatment installed to reduce the phytanic acid accumulation resulted in an unexpected severe weight reduction, rapidly increasing levels of serum phytanic acid and a severe deterioration of the clinical condition. Plasmapheresis was found to be an efficient mode of treating high levels of serum phytanic acid. The patients have been observed for nearly 4 years at changing levels of serum phytanic acid. It is our opinion that a causal relationship exists between the phytanic acid accumulation and, at least, the signs of polyneuropathy.

Place, publisher, year, edition, pages
1972. Vol. 8, no 6, 309-324 p.
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-180764DOI: 10.1159/000114592ISI: A1972N804200002OAI: oai:DiVA.org:uu-180764DiVA: diva2:551935
Available from: 2012-09-12 Created: 2012-09-10 Last updated: 2017-12-07Bibliographically approved

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