Abnormal Myelination in Ring Chromosome 18 Syndrome

作者：Benini Ruba; Saint Martin Christine; Shevell Michael I; Bernard Genevieve^*

来源：Journal of Child Neurology, 2012, 27(8): 1042-1047.

DOI：10.1177/0883073811430268

• ring chromosome 18
• 18q-deletion
• hypomyelination
• imaging

Partial deletion of genetic material from the long arm of chromosome 18 results in a syndrome with multisystemic involvement, including dysmorphic features, intellectual disability, cardiac malformations, endocrine abnormalities, immunodeficiency, musculoskeletal deformities, and variable neurologic manifestations. Hypomyelination has been reported in patients with chromosome 18q- and postulated to be secondary to deletion of the gene coding for myelin basic protein found at 18q23. Little however is reported on cerebral anomalies seen in patients with ring chromosome 18, an analogous syndrome but with expectedly more severe phenotype secondary to the combined deletions of genetic material from both the short (p-) and long arm (q-) of chromosome 18. We are reporting a case of a girl with ring chromosome 18 and deletions involving 18p11.32-18p11.21 and 18q21.31-18q23. The abnormalities observed on magnetic resonance imaging are discussed with a specific focus on the evolution and significance of associated white matter changes.

• 出版日期2012-8