Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient

Rei Takada; Takenori Tozawa; Takumi Yamanaka; Masaharu Moroto; Tomoko Iehara; Tomohiro Chiyonobu

doi:10.1038/s41439-024-00268-x

Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient

Hum Genome Var. 2024 Feb 26;11(1):9. doi: 10.1038/s41439-024-00268-x.

Authors

Rei Takada¹, Takenori Tozawa¹, Takumi Yamanaka², Masaharu Moroto³, Tomoko Iehara¹, Tomohiro Chiyonobu⁴

Affiliations

¹ Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
² Department of Neurosurgery, Kyoto Prefectural University of Medicine, Kyoto, Japan.
³ Department of Pediatrics, Fukuchiyama City Hospital, Kyoto, Japan.
⁴ Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. chiyono@koto.kpu-m.ac.jp.

Abstract

Previous reports have shown that a gain of the chromosome 9 short arm (9p) is associated with choroid plexus hyperplasia (CPH). Furthermore, CPH can lead to communicating hydrocephalus; however, no cases of CPH with 9p gain requiring choroid plexus resection have been reported. Here, we describe the first case in which a 9p hexasomy/tetrasomy mosaic patient required choroid plexus resection for hydrocephalus. This finding suggested that the 9p copy number is correlated with CPH severity.