title: Hypoyelination in I-cell disease; MRI, MR spectroscopy and neuropathological correlation.
abstract: MRI of a female patient with genetically diagnosed I-cell disease at 2weeks, 4 and 8months revealed delayed myelination or hypomyelination with decreased choline on MR spectroscopy. Brain autopsy was performed 2h after death at 14-month-old. Immunoreactivities for myelin basic protein and proteolipid proteins, markers for mature myelin sheath, were reduced in the myelinated fibers and oligodendrocytes in the white matter, indicating the hypomyelination in the central nervous system. I-Cell disease should be added to the list of delayed or hypomyelination conditions, and this neuroimaging finding could be a key for differentiating I-cell disease from the clinically similar disorder of Hurler syndrome characterized by perivascular lacunation.
authors.affiliation: Department of Pediatrics, Kameda Medical Center, Kamogawa, Japan. jtaka44@hotmail.co.jp
authors.forename: Jun-Ichi
authors.initials: J
authors.lastname: Takanashi
authors.forename: Masaharu
authors.initials: M
authors.lastname: Hayashi
authors.forename: Shota
authors.initials: S
authors.lastname: Yuasa
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Satoh
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Terada
mesh_terms: D001921:Brain / Q000378:metabolism / Q000473:pathology*; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009081:Mucolipidoses / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D004676:Myelin Basic Protein / Q000378:metabolism; D018991:Myelin Proteolipid Protein / Q000378:metabolism; D009186:Myelin Sheath / Q000473:pathology; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology*
chemical_list: D004676:Myelin Basic Protein; D018991:Myelin Proteolipid Protein; D003401:Creatine; D002794:Choline