Infantile Metachromatic Leukodystrophy: Case Report

Abstract

Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms. We reported a case of a two-year-old male patient with psychomotor retardation history, developmental delay, poor overall performance and imaging findings compatible with Leukodystrophy are presented. The goal of this case report is to identify clinical presentation and typical MRI features to diagnose MLD, in the absence of an enzyme assay or a gene mutation investigation.

Keywords

• Metachromatic Leukodystrophy
• Arylsulfatase A
• Lysosomal
• White matter disease
• Demyelinating disease