METACHROMATIC LEUKODYSTROPHY: CLINICAL, HISTOCHEMICAL, AND CEREBROSPINAL FLUID ABNORMALITIES

Abstract

A child has been reported with histochemically proven metachromatic leukodystrophy. Central nervous system degeneration began at the age of 20 months and continued to the time of death at the age of 49 months. Prior to death a "cherry red spot" became evident in the retina and is the only known instance of this finding. This adds to the evidence that metachromatic leukodystrophy is one of the neurolipidoses, but the metabolic defect apparently affects primarily the cerebroside sulfuric acid esters. Repeated analyses of cerebrospinal fluid demonstrated an elevated total protein and a "midzone" gold curve. Lipid analysis of serum and cerebrospinal fluid demonstrated findings which are discussed in detail and correlated to the histochemical changes. In addition, comparisons are made with the cerebrospinal fluids in Tay-Sach's and Niemann-Pick's disease. This too revealed important differences between the various neurolipidoses.