LETTER TO THE EDITOR Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression

摘要

The potential of allogeneic hematopoietic stem cell transplantation (HSCT) to ameliorate the natural course of late infantile metachromatic leukodystrophy (MLD) is debated. We here report on the disease progression after a very early HSCT in a pre-symptomatic newborn with late infantile MLD. MLD is an inherited metabolic disorder caused by the deficiency of the lysosomal enzyme arylsulfatase A (ASA) leading to demyelination of the central and peripheral nervous system. In the late-infantile form, onset of symptoms begins between 6 months and 2 years.