The authors describe two cases showing symptoms between the Friedreich's and the Refsum's disease. The clinical diagnosis was made only after measurement of phytol and phytanic acid levels in serum. Also serum levels of phytanic acid in the parents of one patient showed higher values than the normal. The results demonstrate that the clinical diagnosis of Refsum's disease is extremely difficult in view of the changeable and atypical aspects of the clinical symptoms and that the biological tests are indispensable. The values obtained in the parents seem to reduce the real pathogenic importance of a high level of phytanic acid in the serum.
Facciolla, D., Federico, A., Felici, F., Petretta, V., Sannino, V., Simone, F. (1975). Refsum's disease: clinical or biological diagnosis? Discussion of 2 clinical cases [MALATTIA DI REFSUM: DIAGNOSI CLINICA O BIOLOGICA? DISCUSSIONE SU DUE CASI CLINICI]. ACTA NEUROLOGICA, 30(6), 569-575.
Refsum's disease: clinical or biological diagnosis? Discussion of 2 clinical cases [MALATTIA DI REFSUM: DIAGNOSI CLINICA O BIOLOGICA? DISCUSSIONE SU DUE CASI CLINICI]
Federico, A.;
1975-01-01
Abstract
The authors describe two cases showing symptoms between the Friedreich's and the Refsum's disease. The clinical diagnosis was made only after measurement of phytol and phytanic acid levels in serum. Also serum levels of phytanic acid in the parents of one patient showed higher values than the normal. The results demonstrate that the clinical diagnosis of Refsum's disease is extremely difficult in view of the changeable and atypical aspects of the clinical symptoms and that the biological tests are indispensable. The values obtained in the parents seem to reduce the real pathogenic importance of a high level of phytanic acid in the serum.
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https://hdl.handle.net/11365/29642
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