The neuropathy of sulfatide lipidosis (metachromatic leukodystrophy)

Abstract

Children who subsequently have metachromatic leukodystrophy (sulfatide lipidosis) appear to be perfectly normal during the 1st year of life. Between age 1 and 2 years, generalized weakness, hyporeflexia, hypotonia, and unsteadiness of gait develop. At this time, the disorder may resemble peripheral neuropathy, spinal muscular atrophy, or myopathy. However, eventually it results in further deterioration and evidence of central nervous system involvement. The diagnosis of metachromatic leukodystrophy may not be suspected during the prolonged lst stage of illness. In the 2 5-year-old patients described in this report, marked decreases in conduction velocity were demonstrated in large motor and sensory fibers of peripheral nerves. The values for motor fibers were one-third to one-half of the lowest value found in healthy children. Confirmation of the diagnosis was made by sural nerve biopsy and staining the nerve specimens with basic aniline dyes to demonstrate the presence of metachromatic deposits within the myelin sheath.