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Refsum disease. Clinical and morphological report on a case.

G Savettieri, R Camarda, S Galatioto

    Italian Journal of Neurological Sciences
    |October 1, 1982
    PubMed
    Summary

    Atypical Refsum disease can present with peripheral neuropathy. Assaying body fluids for phytanic acid is crucial for diagnosing unusual chronic peripheral neuropathies.

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    Area of Science:

    • Neurology
    • Biochemistry
    • Genetics

    Background:

    • Refsum disease is a rare autosomal recessive disorder.
    • It is characterized by the accumulation of phytanic acid in tissues and body fluids.
    • Phytanic acid accumulation leads to a spectrum of clinical manifestations, including neurological deficits.

    Observation:

    • This report details an atypical presentation of Refsum disease.
    • Peripheral nerve morphological data was collected and analyzed.
    • The case highlights a less common clinical manifestation of the disease.

    Findings:

    • The atypical case underscores the importance of considering Refsum disease in unexplained neuropathies.
    • Morphological analysis provided insights into the peripheral nerve pathology.
    • Elevated phytanic acid levels are the hallmark of the disease.

    Implications:

    • Early diagnosis of Refsum disease is critical for timely intervention and management.
    • Assaying body fluids for phytanic acid should be considered in patients with atypical chronic peripheral neuropathy.
    • This case contributes to the understanding of Refsum disease heterogeneity.

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