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Report of a Case Including Electron Microscopic Studies of the Liver

EDWIN H. KOLODNY, MD; WILLIAM K. HASS, MD; BERNARD LANE, MD; WILLIAM D. DRUCKER, MD

Arch Neurol. 1965;12(6):583-596.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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 . . . [Full Text PDF of this Article]

Author Affiliations
NEW YORK

From the departments of neurology, medicine, and pathology, New York University School of Medicine and the Third Neurology Division, Bellevue Hospital.

Footnotes
Submitted for publication Oct 6, 1964; accepted Jan 30, 1965.

Reprint requests to New York University Medical Center, New York 10016 (Dr. Hass)

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