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[Refsum's disease].

J Dry, M P Delporte, A Pradalier

    La Semaine Des Hopitaux : Organe Fonde Par L'Association D'Enseignement Medical Des Hopitaux De Paris
    |September 10, 1976
    PubMed
    Summary
    This summary is machine-generated.

    Refsum disease, a rare genetic disorder, is diagnosed by specific symptoms and confirmed by elevated phytanic acid levels. Early detection through enzyme studies in family members can identify carriers for potential treatment.

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    Area of Science:

    • Neurology
    • Medical Genetics
    • Biochemistry

    Context:

    • Refsum disease is a rare inherited metabolic disorder.
    • Diagnosis relies on a constellation of clinical signs including retinitis pigmentosa, polyneuritis, and cerebellar ataxia.
    • Biochemical markers such as elevated cerebrospinal fluid (CSF) protein and phytanic acid levels are crucial for confirmation.

    Purpose:

    • To outline the diagnostic criteria for Refsum disease.
    • To highlight the importance of family history and genetic testing.
    • To emphasize the potential for therapeutic intervention in Refsum disease.

    Summary:

    • Clinical diagnosis of Refsum disease involves identifying characteristic symptoms like pigmented retinitis, polyneuritis, and cerebellar syndrome.
    • Confirmation is achieved through laboratory findings of increased CSF protein and phytanemia (elevated phytanic acid).

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  • Enzyme studies on fibroblast cultures enable the detection of heterozygous carriers within affected families.

    • Impact:

    • Facilitates earlier and more accurate diagnosis of Refsum disease.
    • Enables genetic counseling and carrier detection, aiding family planning.
    • Supports the development and application of potential treatments for Refsum disease, improving patient outcomes.