Juvenile Metachromatic Leukodystrophy Masquerading as Communicating Hydrocephalus: A Diagnostic Challenge
Abstract: Background: Juvenile metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase A, leading to progressive sulfatide accumulation and central nervous system demyelination. Its insidious onset and nonspecific early clinical features render it susceptible to diagnostic delay, particularly when co-existing structural brain abnormalities provide an apparently adequate explanation for neurological deterioration. Case Presentation: We report a child with a background of communicating hydrocephalus and a ventriculoperitoneal (VP) shunt who presented with fever, altered behaviour, and regression of previously acquired developmental milestones. The referring team considered subacute sclerosing panencephalitis and chronic meningitis as primary differential diagnoses. MRI of the brain with plain and contrast sequences demonstrated mild ventriculomegaly (Evans index 0.38), significant corpus callosum thinning, and bilateral T2/FLAIR hyperintensities involving the periventricular and deep white matter of the bilateral fronto-temporo-parietal regions with corresponding T1 hypointensity. Post-contrast imaging revealed patchy enhancement within the white matter lesions, indicating active demyelination. Diffusion-weighted imaging showed facilitated diffusion consistent with chronic demyelination. MR spectroscopy of the abnormal white matter demonstrated lipid peaks at 0.9 and 1.3 ppm, elevated choline at 3.2 ppm, and markedly reduced N-acetylaspartate at 2.0 ppm- a metabolic profile characteristic of an active leukodystrophic process. Juvenile MLD was proposed as the leading radiological differential diagnosis, with biochemical confirmation by arylsulfatase A enzyme assay recommended.
Keywords: Leukodystrophy, Metachromatic, Hydrocephalus, Communicating, Magnetic Resonance Spectroscopy, White Matter- pathology, Arylsulfatase A- deficiency
How to Cite?: Dr. Naragoni Ankitha Swarna Bharathi, Dr. Darsh Anoop Sandhu, Dr. Ganesh Avhad, "Juvenile Metachromatic Leukodystrophy Masquerading as Communicating Hydrocephalus: A Diagnostic Challenge", Volume 15 Issue 7, July 2026, International Journal of Science and Research (IJSR), Pages: 1099-1105, https://www.ijsr.net/getabstract.php?paperid=SR26712131717, DOI: https://dx.doi.org/10.21275/SR26712131717