Cranial computed tomography in disorders of complex carbohydrate metabolism and related storage diseases.
Computed tomography (CT) was performed on 34 children with different disorders of complex carbohydrate metabolism and related storage diseases to obtain data on the degree of cerebral involvement. The main findings on CT were cerebral atrophy and hypodensity of the white matter. There was a great variability in these CT findings, even in siblings. Among the patients there were several in whom CT was normal, so a negative study does not exclude one of these disorders. These findings show that CT features such as cerebral atrophy or hypodensity are helpful in the evaluation of these disorders, though a diagnosis cannot be made on the basis of CT alone.
D001928:Brain Diseases, Metabolic / Q000000981:diagnostic imaging*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000000981:diagnostic imaging*; D002648:Child; D006801:Humans; D009081:Mucolipidoses / Q000000981:diagnostic imaging; D009083:Mucopolysaccharidoses / Q000000981:diagnostic imaging; D009472:Neuronal Ceroid-Lipofuscinoses / Q000000981:diagnostic imaging; D009844:Oligosaccharides / Q000378:metabolism; D013106:Sphingolipidoses / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
D009844:Oligosaccharides