A case reported in 1965 to be an example of Refsum's syndrome (heredopathia atactica polyneuritiformis [HAP]) was followed up for five years until the patient died. However, excess levels of phytanic acid could not be demonstrated in his blood, urine, or liver. A number of metabolic studies with phytol and phytanate were carried out to define any abnormalities in this patient and their relations to the abnormalities seen in patients with HAP. These studies yielded only normal results. At postmortem examination the patient did not show any of the stigmas of Refsum's disease (HAP, phytanic acid storage disease). The neuropathologic finding was a patchy, electively demyelinating form of sudanophilic diffuse cerebral sclerosis. It is suggested that this case is an example of a rare group of patients with leukodystrophy in which a variety of nonneurologic somatic disorders constitute a prominent part of the clinical picture.
Kayden HJ, Reagan TJ, Mize CE, Herndon JH, Steinberg D. Diffuse Cerebral Sclerosis: Erroneously Reported as Refsum's Syndrome. Arch Neurol. 1973;28(5):304–307. doi:10.1001/archneur.1973.00490230040004
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