title: Hypomyelination with T2-hypointense globi pallidi in a child with fucosidosis.
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.
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Puneet
authors.initials: P
authors.lastname: Jain
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India sharma.suvasini@gmail.com.
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.affiliation: Department of Radio-diagnosis, JPN Apex Trauma Centre, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Atin
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Satinder
authors.initials: S
authors.lastname: Aneja
mesh_terms: D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000150:complications*; D005645:Fucosidosis / Q000150:complications* / Q000473:pathology*; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine; D008297:Male
keywords: dysostosis; fucosidosis; leukodystrophy; lysosomal storage disorders