Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

Shintaro Nakamura; Kyosuke Ibi; Hiroyuki Tanaka; Hirokazu Takami; Keita Okada; Nao Takasugi; Motohiro Kato; Naoto Takahashi; Takanobu Inoue

doi:10.1038/s41439-024-00274-z

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

Hum Genome Var. 2024 Mar 28;11(1):16. doi: 10.1038/s41439-024-00274-z.

Authors

Affiliations

¹ Department of Pediatrics, The University of Tokyo, Tokyo, Japan.
² Department of Neurosurgery, The University of Tokyo, Tokyo, Japan.
³ Department of Orthopaedic Surgery, The University of Tokyo, Tokyo, Japan.
⁴ Department of Pediatrics, The University of Tokyo, Tokyo, Japan. takanobu.inoue@gmail.com.

^# Contributed equally.

Abstract

Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear. Here, we describe severe osteogenesis imperfecta in an infant with symptomatic hydrocephalus treated with ventriculosubgaleal shunt placement. Targeted next-generation sequencing revealed novel compound heterozygous CRTAP variants, i.e., NM_006371.5, c.241 G > T, p.(Glu81*) and NM_006371.5, c.923-2_932del. We suggest that ventriculosubgaleal shunt placement is an effective and safe treatment for hydrocephalus in patients with severe osteogenesis imperfecta.

Grants and funding

JP22ek0109493/Japan Agency for Medical Research and Development (AMED)