ATYPICAL MANIFESTATIONS IN A FAMILIAL TYP E-I WAARDENBURG-SYNDROME

Background. Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been iden tified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). Case report. We report the case of a patient with Waard enburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg synd rome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. Discussion, This case confirms the variability of Waardenburg signs within one family. The association of unusual neuro logical manifestations in the proband suggested that Vogt Koyanagi Har ada disease may have been associated and may show some relationship wi th familial Waardenburg syndrome.