title: Late infantile metachromatic leucodystrophy (MLD). Clinical and diagnostic evaluation in a typical case.
abstract: A typical case of late infantile MLD is presented with all available clinical, morphological and biochemical results. The diagnostical value of the different parameters is evaluated and the pathogenesis of the disorder discussed. In spite of successful experimental enzyme substitution in cultured MLD fibroblasts with restitution of function by added Arylsulfatase, the therapeutic possibilities for the fatal disease in the patients are extremely limited.
mesh_terms: D000367:Age Factors; D002478:Cells, Cultured; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009431:Neural Conduction; D010375:Pedigree; D012867:Skin / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology