Radiographic features of fucosidosis.
Fucosidosis is an uncommonly recognized lysosomal storage disease which presents with psychomotor deterioration and progressing in some cases to death. The roentgenographic findings in five boys from three families are described. Skeletal abnormalities of a dysostosis multiplex nature are present and though not diagnostic should direct the clinician to perform appropriate biochemical and tissue assay studies to establish the diagnosis.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000209:etiology; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000000981:diagnostic imaging; D011859:Radiography; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D005644:alpha-L-Fucosidase