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Metachromatic leukodystrophy, a group of progressive degenerative neurologic disease with variable age of onset characterized by an autosomal recessive mode of inheritance, shows an accumulation of the sphingolipid, sulfatide, particularly in the Schwann cell of the central and peripheral nervous system by arysulfatase A deficiency.
2 cases of late infantile metachromatic leukodystrophy are reported, who developed normally during a infantile period,... |
