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Hypomyelination with T2-hypointense globi pallidi in a child with fucosidosis
Puneet Jain1, Suvasini Sharma2, Atin Kumar3
1Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
Abstract:
A 4-year-old boy presented with progressive neurodegeneration, mild coarsening of facies and spasticity. The classical neuroimaging guided the subsequent investigation of enzyme assay which confirmed the diagnosis of fucosidosis.
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