Infantile Metachromatic Leukodystrophy: Case Report

Salsabeel  Hamad; Israa  Abufara; Safaa  Zagharneh; Taimaa  Abureesh; Afnan  W. M. Jobran

doi:10.18502/crcp.v8i2.14087

Salsabeel Hamad Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.
Israa Abufara Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.
Safaa Zagharneh Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.
Taimaa Abureesh Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.
Afnan W. M. Jobran Faculty of Medicine, Al-Quds University, Jerusalem, Palestine

DOI: https://doi.org/10.18502/crcp.v8i2.14087

Keywords: Metachromatic Leukodystrophy; Arylsulfatase A; Lysosomal; White matter disease; Demyelinating disease

Abstract

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.