A study of five out of 200 patients presenting behavioural abnormalities and a progressive mental deterioration has found three distinguishable clinical forms of Metachromatic leukodystrophy (MLD).
The results found two patients to be suffering from a late-infantile form of MLD, one case of the juvenile form of MLD, along with the two patients with adult-type of MLD. This showed that magnetic resonance imaging (MRI) is required to guide the diagnosis of MLD patients. Biochemical investigations must also be used to confirm the results, based on the measurement of arylsulfatase A (ASA) activity and the excess of sulfatide showed in the sulfatiduria.
It was revealed from the study that there was clearly three distinguishable clinical forms of MLD. One presented in the juvenile form, two presented in late infantile form and the two other were presented in adult form.
All patients studied were first diagnosed by brain MRI evidencing a bilateral demyelination. ASA activity was then measured using P-nitrocathecol sulfate as substrate. Finally, sulfatiduria was performed using thin-layer chromatography using alpha-naphtol reagent.
Posted by Fiona Griffiths