Lina Lasri, Alia Yassine Kassab, Samia Obilat, Houda Bennani, Lina Belkouchi, Siham El Haddad, Nazik Allali, Latifa Chat
Journal: Medpeer Publisher
ISSN: 3066-2737
Volume: 3
Issue: 8
Date of Publication: 2026/08/15
Metachromatic leukodystrophy (MLD) is a progressive lysosomal storage disorder in which brain magnetic resonance imaging (MRI) may provide the first clue to an inherited white matter disease. We report the radiological findings of a 6-year-old girl with delayed development since birth, a history of fetal distress, longstanding spasticity, inability to walk, and caregiver-reported developmental regression beginning at approximately 18 months of age. She was referred for brain MRI after epileptic seizures. MRI demonstrated bilateral, symmetric, confluent T2- and fluid-attenuated inversion recovery hyperintensity of the periventricular and deep cerebral white matter, most pronounced in the parieto-occipital regions with frontal involvement. The subcortical U-fibers were relatively spared. No corresponding diffusion restriction was identified, and the deep gray nuclei and corpus callosum were preserved. This distribution raised suspicion of a leukodystrophy, particularly MLD. However, the absence of a definite tigroid pattern or callosal involvement, together with the history of fetal distress and early developmental impairment, required careful consideration of chronic perinatal white matter injury. Arylsulfatase A activity, urinary sulfatide analysis, molecular testing, and serial MRI were not available; therefore, MLD could not be confirmed. This case emphasizes that developmental regression is not explained by the static brain disturbance underlying cerebral palsy and should prompt renewed diagnostic evaluation. Symmetry, confluence, and relative U-fiber sparing can orient the radiologist toward a leukodystrophy, but definitive attribution to MLD requires biochemical and genetic confirmation.
Metachromatic leukodystrophy; developmental regression; epilepsy; magnetic resonance imaging; cerebral palsy
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