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

## TL;DR

A novel treatment for hydrocephalus in a severe bone disorder is described, involving a shunt placement and new genetic findings.

## Contribution

The paper introduces a novel treatment approach for hydrocephalus in osteogenesis imperfecta and reports new CRTAP gene variants.

## Key findings

- Ventriculosubgaleal shunt placement was effective and safe for treating hydrocephalus in an infant with severe osteogenesis imperfecta.
- Compound heterozygous CRTAP variants were identified as the genetic cause in the patient.
- The described treatment strategy provides a potential solution for managing hydrocephalus in this rare condition.

## 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.