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.

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.

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