[Fucosidosis type 2. A new case (author's transl)].
We have studied a child 10 years old with a defficit of alpha-fucosidase demonstrated in the urine, serum, tears and fibroblasts culture. The clinical evolution and the presence of a "angiokeratom corporis diffusum" permits one to diagnose the patient in the type 2 fucosidosis. We have revised the clinical features, the exigible criteria for biochemical diagnosis, the histopathological findings, ultrastructural alterations and the genetic aspects; specially the behaviour of the H substance and Lewis in the red cell and saliva.
D001706:Biopsy; D002648:Child; D003937:Diagnosis, Differential; D005959:Glucosidases / Q000032:analysis*; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000201:enzymology*; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D005959:Glucosidases; D005644:alpha-L-Fucosidase
Fucosidosis tipo 2. Aportación de un nuevo caso.