Metachromatic form of diffuse cerebral sclerosis. I. Diagnosis during life by urine sediment examination.

Abstract

American Academy of Neurology Dedicated to advancing the art and science of neurology, and thereby promoting the best possible care for patients with neurological disorders A Celebration of the First 50 Years of the American Academy of Neurology Neurology 1957;7:415-426 In the past three years five children with a progressive demyelinating disease of the central nervous system have been investigated in three different families. This disorder is described as the metachromatic form of diffuse cerebral sclerosis (metachromatic leucoencephalopathy). The scope of the present report will be largely limited to a description of the distinctive findings which all five patients have had on urine sediment examination. These reflect directly the pathologic changes found in the kidneys in this disorder.1 These urine findings, properly interpreted, have permitted a diagnosis of this demyelinating disease of the central nervous system for the first time during life. A brief and introductory review of this disorder and of this case material is pertinent here. Clinical, pathologic, control, and other details on these patients are discussed in other communications. In 1910 Alzheimer and Nissl first commented upon metachromatic staining in the central nervous system in a case of diffuse sclerosis.2,3 Since then, some 18 cases have been reported, only two of them from this continent.4,5 In this form of the disorder, admixed with the expected diffuse demyelination, gliosis, and axonal loss, are quantities of unusual abnormal materials. These materials occur in granular clumps which stain shades of red with blue basic aniline dyes. They stain a color other than that of the dye used, that is, metachromatically. Accordingly, this form of diffuse sclerosis is known as the metachromatic form. A discussion of the general topic of diffuse sclerosis is given elsewhere.6,7 These granular structures characteristically do not stain for neutral fats to any …