Sporadic Refsum-Thiébaut disease in a family with 3 cases of ichthyosis simplex [MALATTIA DI REFSUM THIEBAUT SPORADICA IN UNA FAMIGLIA CON TRE CASI DI ITTIOSI SEMPLICE]

A case of Refsum disease is described. The parents of the patient were not related. In this family there are 3 cases with ichthyosis simplex without Refsum disease and one case, the propositus, with heredopathia atactica polyneuritiformis and ichthyosis. There is, therefore, a dissociation, in the family, of the ichthyosis from all the symptoms of the Refsum disease. In the patient, actually 9 yr old, the earlier symptoms have been in evidence since the beginning of walking. The progression is slow and haemeralopy has been evident since the 8th yr. ERG is still normal. In vegetable free diet phytanic acid in the blood is abnormally elevated.