Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?
Globoid cell leukodystrophy (Krabbe's disease) is a rare autosomal recessive lipidosis, with signs restricted to the nervous system, and is caused by deficiency of the lysosomal hydrolase galactocerebroside beta-galactosidase (galactocerebrosidase). In recent years there have been reports of neurological variants, where age of onset and manifestations differed from the classical form. In other cases, specific CT findings, mainly hyperdensities, have been seen. We report a case of late-infantile Krabbe's disease where thalamic and basal ganglia hyperdensities have been seen on CT scan. We also stress that clinicians should be aware of the possibility of Krabbe's disease in infants who display progressive encephalopathy and these CT findings.
Jardim
L B
LB
Medical Genetics Unit, Clinical Hospital of Porto Alegre, RS, Brazil.
Giugliani
R
R
Fensom
A H
AH
D001479:Basal Ganglia / Q000000981:diagnostic imaging*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005698:Galactosylceramidase / Q000097:blood; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D007965:Leukodystrophy, Globoid Cell / Q000000981:diagnostic imaging* / Q000235:genetics; D013788:Thalamus / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed
D005698:Galactosylceramidase