title: Patchy white matter hyperintensity in ring chromosome 18 syndrome.
abstract: Ring chromosome 18 syndrome is a chromosomal abnormality in which partial deletions occur at both ends of chromosome 18, that is, distally on the short and long arms. Previously reported brain magnetic resonance imaging (MRI) abnormalities include diffuse hyperintensity in the white matter, which has been regarded as hypomyelination because the gene for myelin basic protein production is located on the long arm of chromosome 18. We report the case of a 14-year-old boy with ring chromosome 18 syndrome, whose MRI showed patchy asymmetrical T2 and fluid-attenuated inversion-recovery hyperintensities in the deep white matter as well as diffuse hypomyelination. These patchy lesions may indicate demyelination or gliosis rather than hypomyelination. This result differs from previous reports.
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Tohoku University School of Medicine, Sendai, Japan. jellicle2007@yahoo.co.jp.
authors: Mai
authors: M
authors: Anzai
authors: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors: Natsuko
authors: N
authors: Arai-Ichinoi
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Tohoku University School of Medicine, Sendai, Japan.
authors: Yusuke
authors: Y
authors: Takezawa
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Tohoku University School of Medicine, Sendai, Japan.
authors: Wakaba
authors: W
authors: Endo
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Tohoku University School of Medicine, Sendai, Japan.
authors: Takehiko
authors: T
authors: Inui
authors: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors: Ryo
authors: R
authors: Sato
authors: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors: Atsuo
authors: A
authors: Kikuchi
authors: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors: Mitsugu
authors: M
authors: Uematsu
authors: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors: Shigeo
authors: S
authors: Kure
authors: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Tohoku University School of Medicine, Sendai, Japan.
authors: Kazuhiro
authors: K
authors: Haginoya
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D012303:Ring Chromosomes; D066127:White Matter / Q000000981:diagnostic imaging*
keywords: 18q deletion syndrome; gliosis, hypomyelination; magnetic resonance imaging; ring chromosome 18