Patchy white matter hyperintensity in ring chromosome 18 syndrome
Mai Anzai1, Natsuko Arai-Ichinoi2, Yusuke Takezawa3
1Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Tohoku University School of Medicine, Sendai, Japan. jellicle2007@yahoo.co.jp.
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.
Insights
Ring chromosome 18 syndrome can present with unusual brain MRI findings. Patchy white matter lesions in a 14-year-old suggest demyelination or gliosis, differing from prior hypomyelination observations.
Area of Science:
- Genetics
- Neurology
- Radiology
Background:
- Ring chromosome 18 syndrome involves deletions on chromosome 18, affecting myelin basic protein gene expression.
- Previous brain MRI studies reported diffuse white matter hyperintensities, interpreted as hypomyelination.
Observation:
- A case study of a 14-year-old boy with ring chromosome 18 syndrome was analyzed.
- Brain MRI revealed diffuse hypomyelination alongside patchy, asymmetrical T2 and FLAIR hyperintensities in the deep white matter.
Findings:
- The observed patchy white matter lesions may represent demyelination or gliosis.
- This contrasts with previously reported diffuse hypomyelination as the primary MRI abnormality.
Implications:
- Findings suggest a broader spectrum of white matter abnormalities in ring chromosome 18 syndrome.
- Further research is needed to elucidate the pathogenesis of these MRI findings and their clinical significance.
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