[Metachromatic leukodystrophy. Late juvenile form. Review of 6 cases].
Six cases of late infantile metachromatic leucodystrophy are presented. Behavioral changes and walking disturbances are the initial symptoms which tend to occur around 18 months of age. Slowing of nerve velocity conductions is a constant finding. Two out of six observations had normal CSF protein levels throughout their disease. Diagnosis was confirmed by sural nerve biopsy in two cases and by leucocyte arylsulfatase A measurement in the four remaining patients. Studies for carrier detection were performed in 4 of the 5 affected families.
D002553:Cerebroside-Sulfatase / Q000172:deficiency; D005260:Female; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D008297:Male; D009431:Neural Conduction
D002553:Cerebroside-Sulfatase
Leucodistrofia metacromática. Forma infantil tardía. Revisíon de seis observaciones.