[Krabbe's disease: globoid cell leukodystrophy. Clinical and prenatal diagnosis].
A 9 weeks old boy with infantile globoid cell leukodystrophy is presented. Clinical features consisted of insufficient weight gain, hypertonic musculature, irritability, loss of previously attained skills, loss of visual function, elevation of the cerebrospinal fluid (CSF) protein. He died at the age of 11 months. First-trimester diagnosis was performed in two consecutive pregnancies by means of analysis of chorionic villi in the 9th week.
D002824:Chorionic Villi / Q000032:analysis* / Q000201:enzymology; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D011296:Prenatal Diagnosis; D001616:beta-Galactosidase / Q000032:analysis / Q000172:deficiency
D001616:beta-Galactosidase
De ziekte van Krabbe: globoïdcel leukodystrofie. Klinische en antenatale diagnostiek.