Total: 1 |
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PMID (PMCID) | ||
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71982 |
MALE | Middle Aged |
[Refsum's syndrome (author's transl)]. | ||
Thumler R, Atzpodien W, Kremer GJ, Haferkamp G. Dtsch Med Wochenschr. 1977;102(41):1454-7. |
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Heredopathia atactica polyneuritiformis (Refsum's syndrome) is an autosomal recessively inherited lipidosis characterized by the following signs: peripheral hypertrophic polyneuropathy, cerebellar ataxia, atypical retinitis pigmentosa with night blindness and concentric limitation of the visual fields, anosmia, inner ear hearing disturbances, skeletal anomalies, ichthyotic skin changes, raised protein in the CSF without a cellular increase, and non-specific ECG changes. |