Late infantile metachromatic leukodystrophy in a two-year-old boy: A case report

Abstract

Metachromatic leukodystrophy (MLD) occurs due to cerebroside sulfatide accumulation in the extraneural and neural tissues. Arylsulfatase A (ARSA) enzyme deficiency leads to progressive focal or generalized demyelination. This rare disorder involves both central and peripheral nervous system. We report a two-year-old boy, born of consanguineous marriage presenting with recurrent seizures from 13 months of age, followed by regression of milestones and spasticity from 15 months of age. Neurodegenerative disorder was considered initially and the child underwent neuroimaging followed by enzyme level assay. Magnetic resonance imaging scan (MRI) of brain revealed demyelination involving both cerebral cortex in the periventricular white matter with sparing of subcortical u fibers and tigroid appearances /leopard skin sign, hallmark of metachromatic leukodystrophy. Normal b-galactosidase enzyme activity along with undetectable (ARSA) enzyme levels confirmed the diagnosis of late infantile variant of metachromatic leukodystrophy. A two-year-old boy presented with recurrent, generalized seizures, regression of milestones along with characteristic MRI findings and untraceable ARSA activity suggesting late infantile metachromatic leukodystrophy.