[Type 1 fucosidosis. Anatomical study].
The first Canadian child with complete absence of alpha L-fucosidase is described. The neurological course was characterised by rapid deterioration and he died at the earliest age recorded so far. There are only two published reports of autopsies in this condition to which we add another, together with the ultrastructural findings of a liver biopsy.
D001344:Autopsy; D001706:Biopsy; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D007728:Kupffer Cells / Q000648:ultrastructure; D008099:Liver / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D005644:alpha-L-Fucosidase
Fucosidose de type 1. Etude anatomique.