© 2014 Elsevier Inc. All rights reserved. Metachromatic leukodystrophy (sulfatide lipidosis), an autosomal recessive neurodegenerative disorder of sulfatide catabolism, occurs in 1:40. 000 births. Clinical variability represents a continuum of phenotypes, late infantile to adulthood, including regression of development in late infancy, declining schoolwork during childhood/adolescence, and poor work performance in adulthood. White matter abnormalities characterize late infantile and childhood presentations, gray and white matter abnormalities in later forms. Diagnosis requires assessing deficient arylsulfatase A activity in white cells/cultured skin fibroblasts; the rare protein activator deficiency requires demonstration of sulfatide sulfatase deficiency in cultured skin fibroblasts and absence of activator substance. Treatment is limited to supportive care.
