Infantile Metachromatic Leukodystrophy: Case Report

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