title: MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome).
abstract: We report imaging findings in a 3-year-old boy with the typical mild type of Hunter's disease. MRI revealed multifocal large cyst- or spindle-like areas of increased and decreased signal in the white matter, including the corpus callosum on T1- and T2-weighted images. The white matter showed high signal on T2-weighted images, isointense with cerebrospinal fluid on all other pulse sequences. To our knowledge, these appearances have not been reported in this disorder. Deposition of mucopolysaccharide and/or glycolipid and increase in fluid content seem to be responsible.
authors.affiliation: 2nd Department of Paediatrics, Ohashi Hospital, Toho University School of Medicine, Tokyo, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Shinomiya
authors.forename: T
authors.initials: T
authors.lastname: Nagayama
authors.forename: Y
authors.initials: Y
authors.lastname: Fujioka
authors.forename: T
authors.initials: T
authors.lastname: Aoki
mesh_terms: D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis*