| Abstrakt: |
REFSUM'S syndrome, a hereditary disorder of the nervous system, was first described under the title of "Heredopathia Atactica Polyneuritiformis" by Sigvald Refsum, a Norwegian neurologist, in 1946.1 It is characterized by (1) an atypical retinitis pigmentosa with hemeralopia and concentric constriction of the visual fields, (2) a chronic polyneuritis with progressive paresis in the distal parts of the extremities, (3) an elevated cerebrospinal-fluid (CSF) protein, and (4) ataxia and other cerebellar signs. Less constant manifestations are anosmia, pupillary abnormalities, deafness, ichthyosis, alterations in the electrocardiogram, and skeletal anomalies. Refsum suggested that the disease was transmitted by an autosomal recessive gene and postulated a disturbance in lipid metabolism in affected patients.The patient to be reported has offered us an opportunity to study this syndrome in detail and to report for the first time unusual morphological changes in hepatic parenchymal cells. REPORT OF A CASE A 31-year-old, single, white |
