Patchy white matter hyperintensity in ring chromosome 18 syndrome.

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.