The diagnosis of metachromatic leucodystrophy during life: metachromatic lipids in saliva and cerebrospinal fluid sediments and in the parotid glands

Abstract

Metachromatic leucodystrophy is deserving an increasing interest from neurologists and pediatricians, mainly because it is the only disease in the whole group of diffuse cerebral sclerosis amenable to an intra vitam diagnosis by means of bloodless procedures.The merit for this belongs to Austin 1 , who introduced a simple test to demonstrate metachromatic bodies in the urine sediment. Although Hagberg and Svennerholm 8, 9 later showed that the test might be positive even in normal subjects, it is evident that it must be valued if associated with the proper clinical picture and eventually with the familial incidence.The preence of similar metachromatic bodies was demonstrated in the saliva sediment of 4 patients with metachromatic leucodystrophy belonging to the same family; our investigations were extended to the study of the parotid gland of 2 patients, the presence of metachromatic bodies being evidenced in them. In these 2 patients metachromatic bodies were also found in the cerebrospinal fluid sediment. A simple chromatographic test (DennyBrown et al. 6 ) was used for the demonstration of metachromatic lipids in saliva and cerebrospinal fluid.