Canavan gaixotasuna haurtzaroko eritasun neurodegeneratibo genetiko eta metaboliko arraroa da eta ikusmen-nahasmenduak, akats neurologikoak eta ondorio larriak eragin ditzake. Ez dago tratamendu sendagarririk, baina litio zitratoa ikertzen ari dira. Euskal Herrian diagnostikatu den Canavan gaixotasunaren lehen kasuaren eta Europan lehenbizikoz aurkitutako mutazio berri baten aurkezpena egin dugu. Gako-hitzak: aspartoazilasa, Canavan, leukodistrofia, N-azetil-aspartatoa, neurodegeneratiboa Canavan disease, a rare genetic and metabolic neurodegenerative disorder, occurs at early ages, causing visual, neurological alterations, and fatal consequences. There is no curative treatment, although lithium citrate is being investigated. The authors report the first case of Canavan disease in Basque Country associated to a novel mutation which is identified for the first time in Europe. Keywords: aspartoacylase, Canavan, leukodystrophy, N-acetylaspartate, neurodegenerative