14800-DvRappard

30 Chapter 2 Figure 1. Klüver-PAS staining of white matter in a control (A, 200x) and a patient with MLD (B-C, 100x). (B) demonstrates loss of the normally blue-stained myelin and enlarged macrophages accumulating sulfatides (see also inlay). (C) demonstrates relatively spared white matter in the cerebellum. (D) shows pencil fibers in the basal nuclei, again with myelin loss and storage cells, within relatively spared grey matter. Clinical presentation Metachromatic Leukodystrophy is divided into three clinical subtypes, based on the age of onset of the first symptoms. These can be deterioration inmotor or cognitive function or behavioral problems, depending on the clinical subtype. The disease inevitably ends in a decerebrated state and eventually death. Its course and duration are however highly variable, depending on the age of onset of the first symptoms. The late infantile form has its onset before 30 months and is characterized by rapid progression of psychomotor regression resulting in ataxia and weakness with areflexia. 1 Some children have only signs of a progressive peripheral neuropathy during several months, before central nervous system involvement becomes apparent. As the disease progresses patients start suffering from dysphagia and drooling and feeding via