Patchy white matter hyperintensity in ring chromosome 18 syndrome

Mai Anzai, Natsuko Arai-Ichinoi, Yusuke Takezawa, Wakaba Endo, Takehiko Inui, Ryo Sato, Atsuo Kikuchi, Mitsugu Uematsu, Shigeo Kure, Kazuhiro Haginoya

Research output: Contribution to journalComment/debate

5 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)919-922
Number of pages4
JournalPediatrics International
Issue number9
Publication statusPublished - 2016 Sept 1


  • 18q deletion syndrome
  • gliosis, hypomyelination
  • magnetic resonance imaging
  • ring chromosome 18


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