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[Refsum's syndrome (author's transl)]

R Thümler, W Atzpodien, G J Kremer

    Deutsche Medizinische Wochenschrift (1946)
    |October 14, 1977
    PubMed
    Summary
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    Refsum's syndrome, a lipidosis, involves neurological and physical symptoms due to phytanic acid buildup. A specialized diet significantly reduced phytanic acid levels and improved patient symptoms.

    Area of Science:

    • Biochemistry
    • Genetics
    • Neurology

    Background:

    • Refsum's syndrome is an autosomal recessive lipidosis.
    • It is characterized by a buildup of phytanic acid due to impaired degradation.
    • Clinical manifestations include polyneuropathy, ataxia, retinitis pigmentosa, and ichthyosis.

    Observation:

    • A patient presented with clinical, chemical, neurophysiological, and histological findings consistent with Refsum's syndrome.
    • Elevated phytanic acid levels were detected in blood, CSF, and tissues.
    • The patient exhibited peripheral hypertrophic polyneuropathy, cerebellar ataxia, retinitis pigmentosa, anosmia, hearing loss, skeletal anomalies, and ichthyotic skin changes.

    Findings:

    • Biochemical analysis revealed an atypical increase of phytanic acid.

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  • The metabolic defect stems from a disturbance in exogenous phytanic acid degradation.
  • A low phytol- and phytanic-acid diet led to a significant decrease in serum phytanic acid.

    • Implications:

    • Dietary intervention can effectively manage phytanic acid levels in Refsum's syndrome.
    • This case highlights the importance of early diagnosis and metabolic management.
    • Further research into phytanic acid metabolism could reveal new therapeutic targets.