[Atypical manifestations in familial type 1 Waardenburg syndrome].
BACKGROUND
Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively).


METHODS
We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading.


CONCLUSIONS
This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.
Sans
B
B
Service de Dermatologie, Hôpital de Castres, Maréchal Foch.
Calvas
P
P
Bazex
J
J
D000328:Adult; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003241:Consanguinity; D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D016368:Frameshift Mutation; D018740:Genetic Heterogeneity; D006801:Humans; D017496:Hypopigmentation / Q000209:etiology; D008297:Male; D009902:Optic Neuritis / Q000209:etiology; D010375:Pedigree; D014607:Uveomeningoencephalitic Syndrome / Q000175:diagnosis; D014849:Waardenburg Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology*
D004268:DNA-Binding Proteins