Metachromatic leucodystrophy is deserving an increasing interest from neurologists and pediatricians, mainly because it is the only disease in the whole group of diffuse cerebral sclerosis amenable to an intra vitam diagnosis by means of bloodless procedures. The merit for this belongs to Austin 1 , who introduced a simple test to demonstrate metachromatic bodies in the urine sediment. Although...

Case presentation: We report a case of female infant, with normal previous neuropsychomotor development, at 21 months age had presented sudden regression development after an infectious condition. Initially its courses were composed by ataxia, vomiting, hypotonia and behavior alteration, loss gait language in period two months, associated focal seizures, relevant dystonia (opisthotonus) spastic...

The specific activities of lysosomal hydrolases in cultured skin fibroblasts and amniotic fluid cells showed wide and unpredictable variations between cultures, which may lead to difficulty in differentiating normal, heterozygous, and homozygous cells. However, the variability for a given culture was similar for all enzymes assayed, so that a clearer differentiation of a relative deficiency of ...