Cerebral white matter abnormalities associated with chromosome 18q duplication

Area of Science:

• Genetics and Neurology
• Pediatric Medicine

Background:

• Chromosome 18q duplications present phenotypes similar to trisomy 18, including growth issues, feeding difficulties, and congenital malformations.
• Brain MRI in 18q duplication patients typically shows cerebral atrophy, despite potential seizures and developmental impairment.

Observation:

• A neonate with a 52.2 Mb 18q duplication exhibited striking white matter abnormalities on brain MRI, particularly in the frontal lobes.
• The patient's clinical presentation aligned with trisomy 18, featuring characteristic facial features, hypotonia, and cardiac malformation.

Findings:

• Cerebral white matter anomalies were observed in this 18q duplication case, a finding not previously reported.
• This radiologic pattern is recognized in 18q deletion syndrome, potentially linked to myelin basic protein (MBP) gene haploinsufficiency.

Implications:

• The observed white matter anomalies in 18q duplication warrant further investigation into their underlying mechanisms.
• This case highlights the variability of neurological presentations in 18q duplication syndrome and its overlap with deletion syndromes.