title: MR spectroscopy in 18q(-) syndrome suggesting other than hypomyelination.
abstract: We reported a 5-year-old boy with 18q(-) syndrome who showed typical magnetic resonance imaging (MRI) findings of high signal intensity on T2-weighted imaging, and a slightly high but lower than normal signal on T1-weighted imaging of the white matter. MR spectroscopy (MRS) revealed increased concentrations of creatine, myoinositol and choline with a normal N-acetylaspartate one. The cerebral white matter lesions observed on MRI in patients with 18q(-) syndrome have been considered to reflect hypomyelination due to a decrease in myelin basic protein so far, however, MRS suggested reactive astrocytic gliosis and accelerated myelin turnover, which are compatible with recent pathological reports of 18q(-) syndrome.
authors: Department of Pediatrics, Chibaken Saiseikai Narashino Hospital, Narashino, Japan. Electronic address: h.tada@hotmail.co.jp.
authors: Hiroko
authors: H
authors: Tada
authors: Department of Pediatrics, Kameda Medical Center, Kamogawa, Japan; Department of Radiology, Toho University Sakura Medical Center, Sakura, Japan.
authors: Jun-ichi
authors: J
authors: Takanashi
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000378:metabolism*; D002887:Chromosomes, Human, Pair 18 / Q000378:metabolism; D003401:Creatine; D006801:Humans; D007294:Inositol; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology*
chemical_list: D001224:Aspartic Acid; D007294:Inositol; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline
keywords: 18q(-) syndrome; Gliosis; Hypomyelination; MBP gene; MR spectroscopy