Case report reveals misdiagnosed metachromatic leukodystrophy in a child, highlighting diagnostic challenges and implications for gene therapies.
Overview This dataset contains a comprehensive case report and high-resolution 1.5T MRI neuroimaging of a 4-year-old child with late-infantile Metachromatic Leukodystrophy (MLD), originally misdiagnosed as Cerebral Palsy. The case highlights the "diagnostic trap" of neuroregression in resource-limited settings. Key Radiological Assets The attached neuroimaging files provide a textbook-quality demonstration of the pathognomonic "tigroid" (leopard-skin) pattern. The 1.5T MRI images exhibit exceptional contrast, clearly defining: Perivenular Myelin Sparing: Distinct radially oriented hypointense stripes within the demyelinated white matter. U-Fiber Sparing: Sharp demarcation of preserved subcortical fibers. High-Contrast Demyelination: Ideal for educational reference and AI/ML model training for rare leukodystrophies. Updated Analysis (2026) While the clinical case was originally identified in 2016, this report has been updated to include a modern discussion on the differential diagnosis (versus CP) and the implications of emerging gene therapies (atidarsagene autotemcel) for early detection. Historical Note This case was originally presented in print-only proceedings of [NHLGMJ] in 2016. This digital record represents the updated, digitized version with high-fidelity imaging restored for the scientific record.
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Umesh Joshi (2016) studied this question.
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