Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report

Abstract

This abstract provides an overview of metachromatic leukodystrophy (MLD), an autosomal recessive disorder stemming from arylsulfatase A deficiency. MLD leads to cerebroside sulfate accumulation, causing central and peripheral demyelination. Clinical manifestations vary by age group: late-infantile (rapid progression), juvenile (slower progression), and adult-onset (psychiatric symptoms). A case study details a 23-year-old with progressive vision impairment, motor weakness, and cognitive changes. Examination and MRI findings led to suspicion of MLD, later confirmed by enzyme testing. Optic nerve involvement is emphasized, along with diagnostic criteria involving enzyme assays, imaging, and urinary sulfatide excretion tests. While no cure exists, symptomatic and supportive care, including hematopoietic stem cell transplantation, remains key in MLD management.

Keywords: Adult onset; Metachromatic leukodystrophy (MLD); Motor weakness; Optic atrophy.

Fig. 1

(A) T1 weighted axial MRI image at the lateral ventricle level showing low signal intensity in the periventricular and deep white matter of the bilateral frontal lobe. (B) T2 weighted axial image at the level of lateral ventricle showing high signal intensity in the bilateral periventricular and deep white matter with low signal stripes in between giving a “tigroid” pattern. (C) FLAIR weighted axial image at the level of the lateral ventricle showing the high signal intensity in the periventricular and deep white matter of the bilateral frontoparietal lobe with low signal stripes within ( white arrow).

Fig. 2

(A) Oblique coronal T2 weighted image of right orbit showing the measurement of optic nerve sheath diameter. (B) Oblique coronal T2 weighted image of left orbit showing the measurement of the left optic nerve sheath diameter.