title: MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease.
abstract: Van der Knaap disease, characterized by megalencephalic leukoencephalopathy and subcortical cysts, is a rare and recently defined condition. We discuss here the MR image (MRI) and MR spectroscopy (MRS) features in a 30-year-old man with S93L homozygous mutation in the MLC1 gene. MRI demonstrated high intensity diffuse white matter with T2-weighted image and subcortical cysts in the parietal and temporal lobes and MRS showed mildly reduced N-acetylaspartate (NAA) in areas of severe T2 elongation with a long TE sequence. A peak of lactate/lipid was indicated at a chemical shift of 1.3 ppm with a short TE sequence. The peak for myo-inositol was normal in areas of severe and mild T2 elongation with short TE MRS. These findings suggest that demyelination progresses slowly in van der Knaap disease and that MRS with long and short TE is useful for the evaluation of neural metabolization associated with van der Knaap disease.
authors.affiliation: Department of Pediatrics, Gifu Prefectral Gifu Hospital, 4-6-1, Noishiki, Gifu 500-8717, Japan.
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Morita
authors.forename: Atsushi
authors.initials: A
authors.lastname: Imamura
authors.forename: Naoki
authors.initials: N
authors.lastname: Matsuo
authors.forename: Koji
authors.initials: K
authors.lastname: Tatebayashi
authors.forename: Kentaro
authors.initials: K
authors.lastname: Omoya
authors.forename: Yukitoshi
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Seiichi
authors.initials: S
authors.lastname: Tsujino
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D003560:Cysts / Q000473:pathology; D015140:Dementia, Vascular / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007930:Leucine / Q000235:genetics; D007968:Leukoencephalopathy, Progressive Multifocal / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D012694:Serine / Q000235:genetics; D013577:Syndrome
chemical_list: C425069:MLC1 protein, human; D008565:Membrane Proteins; D012694:Serine; D007930:Leucine