Sep 2026· Annals of Child Neurology· Vol 34, pp. 340-342· 0 citations· 7 references
TL;DR
The case of a child with genetically confirmed tetrasomy 18p and nonspecific neuro-imaging findings that may mimic acquired white matter injury or imaging patterns associated with cerebral palsy are reported.
Abstract
Tetrasomy 18p is a rare chromosomal disorder resulting from the presence of an isochromosome 18p, which leads to four copies of the short arm of chromosome 18. Affected individuals typically present with global developmental delay, hypotonia, intellectual disability, and variable dysmorphic features; most cases arise de novo [1-3]. Although the clinical spectrum of tetrasomy 18p has been described, associated structural brain abnormalities on neuroimaging have received only limited attention [1,2,4]. We report the case of a child with genetically confirmed tetrasomy 18p and nonspecific neuro-imaging findings that may mimic acquired white matter injury or imaging patterns associated with cerebral palsy. This case report was approved by the Institutional Review Board of Keimyung University Dongsan Hospital (IRB No. 2026-02-015
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